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: PA2573072867

Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 371005

ClinVar RCV Id: RCV000412267

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001361309.1:p.Met1Lys