Allele Registry

Canonical Allele Identifier: PA274161

Gene: ASPA HGNC NCBI

ClinVar RCV:

RCV000169314

RCV001093138

RCV002265654

ClinVar Variation:

188940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121557.1:p.Pro181Thr	CA274160 NM_001128085.1:c.541C>A