Canonical Allele Identifier: PA2825520114
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 93128
ClinVar RCV Id: RCV000078952 RCV000723561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Thr243Ile
CA278425
NM_001085428.3:c.728C>T