Canonical Allele Identifier: PA219031
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68137
ClinVar RCV Id: RCV000058968 RCV000778670
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Pro157Leu
CA219030
NM_000487.5:c.470C>T