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: PA1139694859

Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 485542

ClinVar RCV Id: RCV000565785 RCV001853768 RCV001273983

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230673.1:p.Tyr430del	CA349399 NM_001243744.2:c.1290C>A CA374107297 NM_001243744.2:c.1290C>G CA374107304 NM_001243744.2:c.1287C>G CA374107305 NM_001243744.2:c.1287C>A CA589580888 NM_001243744.2:c.1288_1290del