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: PA916015093

Gene: FANCA HGNC NCBI

Linked Data

ClinVar Variation Id: 237048

ClinVar RCV Id: RCV000230300 RCV000498721 RCV000665186

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273096.1:p.Thr1131Ala	CA8251197 NM_001286167.3:c.3391A>G