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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:
CA2483597840
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207955528_207955532delinsACACT , CM000663.2:g.207955528_207955532delinsACACT
GRCh38
NC_000001.10:g.208128873_208128877delinsACACT , CM000663.1:g.208128873_208128877delinsACACT
GRCh37
NC_000001.9:g.206195496_206195500delinsACACT
NCBI36
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