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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:
CA2797235616
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501396_102501397del , CM000674.2:g.102501396_102501397del
GRCh38
NC_000012.11:g.102895174_102895175del , CM000674.1:g.102895174_102895175del
GRCh37
NC_000012.10:g.101419304_101419305del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749289.1:n.1952+17508_1952+17509del
Search 100 bp 5'
Search 100 bp 3'