Allele Registry

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.

Canonical Allele Identifier: PA916007179

Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 127531

ClinVar RCV Id: RCV000115341 RCV000206060 RCV002381419

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230673.1:p.Arg433Cys	CA287184 NM_001243744.2:c.1297C>T