Allele Registry

Canonical Allele Identifier: PA915970580

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058954

RCV003500500

ClinVar Variation:

68124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Leu70Pro	CA219004 NM_001085427.3:c.209T>C