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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA934300513
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1564913903
gnomAD v3:
11-640099-A-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG
gnomAD v4:
11-640099-A-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640109_640156dup , CM000673.2:g.640109_640156dup
GRCh38
NC_000011.9:g.640109_640156dup , CM000673.1:g.640109_640156dup
GRCh37
NC_000011.8:g.630109_630156dup
NCBI36
NG_021241.1:g.7805_7852dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.860_907dup
MANE Select
ENSP00000176183.5:p.Pro302_Pro303insGlnAs...
ENST00000176183.5:c.860_907dup
ENSP00000176183.5:p.Pro302_Pro303insGlnAs...
NM_000797.3:c.860_907dup
NP_000788.2:p.Pro302_Pro303insGlnAspProCy...
NM_000797.4:c.860_907dup
MANE Select
NP_000788.2:p.Pro302_Pro303insGlnAspProCy...
Search 100 bp 5'
Search 100 bp 3'