Allele Registry

Canonical Allele Identifier: PA219015

Gene: ARSA HGNC NCBI

ClinVar Allele:

79020

1380054

ClinVar RCV:

RCV000058960

RCV000803574

RCV001950830

ClinVar Variation:

68129

1455794

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Gly101Val	CA219014 NM_000487.5:c.302G>T CA2573158322 NM_000487.5:c.302_303delinsTT