Canonical Allele Identifier: PA2825519991
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2139601
ClinVar RCV Id: RCV003052681

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Glu169Asp
CA325531461
NM_001085428.3:c.507G>C
CA412176280
NM_001085428.3:c.507G>T