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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:
CA1769514525
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734912_20734913delinsGC , CM000670.2:g.20734912_20734913delinsGC
GRCh38
NC_000008.10:g.20592423_20592424delinsGC , CM000670.1:g.20592423_20592424delinsGC
GRCh37
NC_000008.9:g.20636703_20636704delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949569.3:n.72-55534_72-55533delinsGC
Search 100 bp 5'
Search 100 bp 3'