Allele Registry

Canonical Allele Identifier: PA2828156882

Gene: AP5Z1 HGNC NCBI

ClinVar RCV:

RCV000192608

RCV001087595

ClinVar Variation:

210221

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351787.1:p.Ala378Ser	CA205539 NM_001364858.1:c.1132G>T