Canonical Allele Identifier: PA915970671
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_001078896.2:p.Arg246His
CA219052
NM_001085427.3:c.737G>A