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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:
CA379008431
Gene: DRD4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr11:g.640258A>T (hg19)
chr11:g.640258A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640258A>T , CM000673.2:g.640258A>T
GRCh38
NC_000011.9:g.640258A>T , CM000673.1:g.640258A>T
GRCh37
NC_000011.8:g.630258A>T
NCBI36
NG_021241.1:g.7954A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.1009A>T
MANE Select
ENSP00000176183.5:p.Ile337Phe
ENST00000176183.5:c.1009A>T
ENSP00000176183.5:p.Ile337Phe
NM_000797.3:c.1009A>T
NP_000788.2:p.Ile337Phe
NM_000797.4:c.1009A>T
MANE Select
NP_000788.2:p.Ile337Phe
Search 100 bp 5'
Search 100 bp 3'