Allele Registry

Canonical Allele Identifier: PA2825518427

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000058991

RCV000578460

ClinVar Variation:

68159

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Thr306Met	CA219074 NM_001085425.3:c.917C>T