Canonical Allele Identifier: PA2828065216
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2139601
ClinVar RCV Id: RCV003052681
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Glu169Asp
CA325531461
NM_001362782.2:c.507G>C
CA412176280
NM_001362782.2:c.507G>T