Allele Registry

Canonical Allele Identifier: PA273982

Gene: ASPA HGNC NCBI

ClinVar RCV:

RCV000169134

RCV000587229

RCV002262764

ClinVar Variation:

188803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121557.1:p.Ala287Thr	CA273981 NM_001128085.1:c.859G>A