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: PA2573186741

Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 1464205

ClinVar RCV Id: RCV001963404

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230673.1:p.Leu228Ser	CA374109516 NM_001243744.2:c.683T>C