Canonical Allele Identifier: PA2828065169
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3071
ClinVar RCV Id: RCV000003217 RCV000343115
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Ala140Val
CA278030
NM_001362782.2:c.419C>T