Allele Registry

Canonical Allele Identifier: PA2828065404

Gene: ARSA HGNC NCBI

ClinVar RCV:

RCV000020311

RCV000078937

RCV000675747

ClinVar Variation:

21184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349711.1:p.Thr307Ser	CA146668 NM_001362782.2:c.920C>G CA412170049 NM_001362782.2:c.919A>T