Allele Registry

Canonical Allele Identifier: PA2828065340

Gene: ARSA HGNC NCBI

ClinVar Allele:

2038738

ClinVar RCV:

RCV002780356

ClinVar Variation:

1980867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Thr243Ser	CA412172611 NM_001362782.2:c.728C>G CA412172638 NM_001362782.2:c.727A>T