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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:
CA934300647
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1858188119
gnomAD v3:
11-640103-TCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTC-T
gnomAD v4:
11-640103-TCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640109_640157del , CM000673.2:g.640109_640157del
GRCh38
NC_000011.9:g.640109_640157del , CM000673.1:g.640109_640157del
GRCh37
NC_000011.8:g.630109_630157del
NCBI36
NG_021241.1:g.7805_7853del
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.860_908del
MANE Select
ENSP00000176183.5:p.Gln287ArgfsTer?
ENST00000176183.5:c.860_908del
ENSP00000176183.5:p.Gln287ArgfsTer?
NM_000797.3:c.860_908del
NP_000788.2:p.Gln287ArgfsTer?
NM_000797.4:c.860_908del
MANE Select
NP_000788.2:p.Gln287ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'