Allele Registry

Canonical Allele Identifier: PA219005

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058954

RCV003500500

ClinVar Variation:

68124

HGVS (amino-acid)	Matching Registered Transcripts
NP_000478.3:p.Leu70Pro	CA219004 NM_000487.5:c.209T>C