Canonical Allele Identifier: PA219055
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68149
ClinVar RCV Id: RCV000058980 RCV000524971
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Phe249Ser
CA219054
NM_000487.5:c.746T>C