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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:
CA2611727430
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-640331-GGAGGA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640338_640342del , CM000673.2:g.640338_640342del
GRCh38
NC_000011.9:g.640338_640342del , CM000673.1:g.640338_640342del
GRCh37
NC_000011.8:g.630338_630342del
NCBI36
NG_021241.1:g.8034_8038del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000176183.6:c.1057+32_1057+36del
MANE Select
ENSP00000176183.5:n.1057+32_1057+36del
ENST00000176183.5:c.1057+32_1057+36del
ENSP00000176183.5:n.1057+32_1057+36del
NM_000797.3:c.1057+32_1057+36del
NP_000788.2:n.1057+32_1057+36del
NM_000797.4:c.1057+32_1057+36del
MANE Select
NP_000788.2:n.1057+32_1057+36del
Search 100 bp 5'
Search 100 bp 3'