Allele Registry

Canonical Allele Identifier: PA2828156793

Gene: AP5Z1 HGNC NCBI

ClinVar Allele:

240090

ClinVar RCV:

RCV000228923

RCV001847981

RCV002518353

ClinVar Variation:

240933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351787.1:p.Gly267Arg	CA4137705 NM_001364858.1:c.799G>A CA366662037 NM_001364858.1:c.799G>C