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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:
CA1715429630
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69146921_69146924delinsCATA , CM000669.2:g.69146921_69146924delinsCATA
GRCh38
NC_000007.13:g.68611908_68611911delinsCATA , CM000669.1:g.68611908_68611911delinsCATA
GRCh37
NC_000007.12:g.68249844_68249847delinsCATA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-798_88-795delinsTATG
Search 100 bp 5'
Search 100 bp 3'