Allele Registry

Canonical Allele Identifier: PA2825519750

Gene: ARSA HGNC NCBI

ClinVar Allele:

79020

1380054

ClinVar RCV:

RCV000058960

RCV000803574

RCV001950830

ClinVar Variation:

68129

1455794

HGVS (amino-acid)	Matching Registered Transcripts
NP_001078897.1:p.Gly15Val	CA219014 NM_001085428.3:c.44G>T CA2573158322 NM_001085428.3:c.44_45delinsTT