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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:
CA1715429880
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147025_69147026delinsTG , CM000669.2:g.69147025_69147026delinsTG
GRCh38
NC_000007.13:g.68612012_68612013delinsTG , CM000669.1:g.68612012_68612013delinsTG
GRCh37
NC_000007.12:g.68249948_68249949delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-900_88-899delinsCA
Search 100 bp 5'
Search 100 bp 3'