Canonical Allele Identifier: PA2825520059
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3093
ClinVar RCV Id: RCV000003239 RCV000058989
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Cys216Phe
CA116011
NM_001085428.3:c.647G>T