Canonical Allele Identifier: PA219053
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68148
ClinVar RCV Id: RCV000058979 RCV000150061
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Arg246His
CA219052
NM_000487.5:c.737G>A