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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:
CA1858359251
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.79730989_79730990delinsTC , CM000671.2:g.79730989_79730990delinsTC
GRCh38
NC_000009.11:g.82345904_82345905delinsTC , CM000671.1:g.82345904_82345905delinsTC
GRCh37
NC_000009.10:g.81535724_81535725delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_929980.1:n.1019+677_1019+678delinsTC
Search 100 bp 5'
Search 100 bp 3'