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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:
CA2259636215
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618817_40618818delinsGA , CM000679.2:g.40618817_40618818delinsGA
GRCh38
NC_000017.10:g.38775069_38775070delinsGA , CM000679.1:g.38775069_38775070delinsGA
GRCh37
NC_000017.9:g.36028595_36028596delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'