Canonical Allele Identifier: PA2828065105
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2080901
ClinVar RCV Id: RCV003002281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Asn100Lys
CA412177544
NM_001362782.2:c.300C>G
CA412177546
NM_001362782.2:c.300C>A