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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:
CA2119405681
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.111567473_111567475delinsGTC , CM000675.2:g.111567473_111567475delinsGTC
GRCh38
NC_000013.10:g.112219820_112219822delinsGTC , CM000675.1:g.112219820_112219822delinsGTC
GRCh37
NC_000013.9:g.111017821_111017823delinsGTC
NCBI36
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