Allele Registry

Canonical Allele Identifier: PA214758

Gene: ATP8A2 HGNC NCBI

ClinVar RCV:

RCV000043652

ClinVar Variation:

50946

HGVS (amino-acid)	Matching Registered Transcripts
NP_057613.4:p.Ile376Met	CA214757 NM_016529.6:c.1128C>G