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: PA2827243601

Gene: FANCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2811337

ClinVar RCV Id: RCV003637058

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001311091.1:p.Thr596Asn	CA412439625 NM_001324162.2:c.1787C>A