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: PA2580233815

Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2047343

ClinVar RCV Id: RCV002904235

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361309.1:p.Gly394Glu	CA7691525 NM_001374380.1:c.1181G>A