Allele Registry

Canonical Allele Identifier: PA2825518471

Gene: ARSA HGNC NCBI

ClinVar Allele:

99035

ClinVar RCV:

RCV000078952

RCV000723561

ClinVar Variation:

93128

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078894.2:p.Thr329Ile	CA278425 NM_001085425.3:c.986C>T