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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:
CA2746654185
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.172741862del , CM000663.2:g.172741862del
GRCh38
NC_000001.10:g.172711002del , CM000663.1:g.172711002del
GRCh37
NC_000001.9:g.170977625del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922289.1:n.27-33957del
Search 100 bp 5'
Search 100 bp 3'