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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:
CA2671575176
Gene:
Linked Data
gnomAD v4:
4-102501254-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501259del , CM000666.2:g.102501259del
GRCh38
NC_000004.11:g.103422416del , CM000666.1:g.103422416del
GRCh37
NC_000004.10:g.103641448del
NCBI36
NG_050628.1:g.4931del
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.637del
XP_011530769.1:p.Ala213ArgfsTer18
NR_136202.1:n.48+1184del
Search 100 bp 5'
Search 100 bp 3'