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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:
CA2602694460
Gene:
Linked Data
gnomAD v3:
4-102501001-GA-G
gnomAD v4:
4-102501001-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501002del , CM000666.2:g.102501002del
GRCh38
NC_000004.11:g.103422159del , CM000666.1:g.103422159del
GRCh37
NC_000004.10:g.103641191del
NCBI36
NG_050628.1:g.4674del
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+247del
XP_011530769.1:n.643+247del
NR_136202.1:n.48+1437del
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