Allele Registry

Canonical Allele Identifier: PA2825029085

Gene: ASPA HGNC NCBI

ClinVar RCV:

RCV000494038

RCV000668788

RCV003226309

ClinVar Variation:

430157

HGVS (amino-acid)	Matching Registered Transcripts
NP_000040.1:p.Pro257Arg	CA8289036 NM_000049.4:c.770C>G