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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:
CA2790134188
Gene: DRD4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640335_640350del , CM000673.2:g.640335_640350del
GRCh38
NC_000011.9:g.640335_640350del , CM000673.1:g.640335_640350del
GRCh37
NC_000011.8:g.630335_630350del
NCBI36
NG_021241.1:g.8031_8046del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+29_1057+44del
MANE Select
ENSP00000176183.5:n.1057+29_1057+44del
ENST00000176183.5:c.1057+29_1057+44del
ENSP00000176183.5:n.1057+29_1057+44del
NM_000797.3:c.1057+29_1057+44del
NP_000788.2:n.1057+29_1057+44del
NM_000797.4:c.1057+29_1057+44del
MANE Select
NP_000788.2:n.1057+29_1057+44del
Search 100 bp 5'
Search 100 bp 3'