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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:
CA934301035
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1858203330
gnomAD v3:
11-640335-GAGA-G
gnomAD v4:
11-640335-GAGA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640336_640338del , CM000673.2:g.640336_640338del
GRCh38
NC_000011.9:g.640336_640338del , CM000673.1:g.640336_640338del
GRCh37
NC_000011.8:g.630336_630338del
NCBI36
NG_021241.1:g.8032_8034del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+30_1057+32del
MANE Select
ENSP00000176183.5:n.1057+30_1057+32del
ENST00000176183.5:c.1057+30_1057+32del
ENSP00000176183.5:n.1057+30_1057+32del
NM_000797.3:c.1057+30_1057+32del
NP_000788.2:n.1057+30_1057+32del
NM_000797.4:c.1057+30_1057+32del
MANE Select
NP_000788.2:n.1057+30_1057+32del
Search 100 bp 5'
Search 100 bp 3'