Allele Registry

Canonical Allele Identifier: PA915970676

Gene: ARSA HGNC NCBI

ClinVar Allele:

79040

ClinVar RCV:

RCV000058980

RCV000524971

ClinVar Variation:

68149

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Phe249Ser	CA219054 NM_001085427.3:c.746T>C