Canonical Allele Identifier: PA219089
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68166
ClinVar RCV Id: RCV000058998 RCV001004415
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000478.3:p.Glu314Asp
CA219088
NM_000487.5:c.942G>T
CA412174472
NM_000487.5:c.942G>C