Allele Registry

Canonical Allele Identifier: PA645469846

Gene: ASPA HGNC NCBI

ClinVar RCV:

RCV000494038

RCV000668788

RCV003226309

ClinVar Variation:

430157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121557.1:p.Pro257Arg	CA8289036 NM_001128085.1:c.770C>G