Allele Registry

Canonical Allele Identifier: PA915970745

Gene: ARSA HGNC NCBI

ClinVar Allele:

79050

ClinVar RCV:

RCV000058991

RCV000578460

ClinVar Variation:

68159

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078896.2:p.Thr306Met	CA219074 NM_001085427.3:c.917C>T