Canonical Allele Identifier: PA2825520113
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1980867
ClinVar RCV Id: RCV002780356

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Thr243Ser
CA412172611
NM_001085428.3:c.728C>G
CA412172638
NM_001085428.3:c.727A>T