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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:
CA1256713025
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.64276828_64276832delinsCACCT , CM000664.2:g.64276828_64276832delinsCACCT
GRCh38
NC_000002.11:g.64503962_64503966delinsCACCT , CM000664.1:g.64503962_64503966delinsCACCT
GRCh37
NC_000002.10:g.64357466_64357470delinsCACCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'