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: PA2828508863

Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 290073

ClinVar RCV Id: RCV000373443 RCV001363290

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361306.1:p.Gly138Arg	CA7691150 NM_001374377.1:c.412G>A CA393619407 NM_001374377.1:c.412G>C