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: PA2825188686

Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2222406

ClinVar RCV Id: RCV002687697

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Ala191Val	CA10324978 NM_000487.5:c.572C>T