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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:
CA2750759123
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85472626_85472627del , CM000664.2:g.85472626_85472627del
GRCh38
NC_000002.11:g.85699749_85699750del , CM000664.1:g.85699749_85699750del
GRCh37
NC_000002.10:g.85553260_85553261del
NCBI36
Search 100 bp 5'
Search 100 bp 3'