Allele Registry

Canonical Allele Identifier: PA645419216

Gene: AP5Z1 HGNC NCBI

ClinVar Allele:

240090

ClinVar RCV:

RCV000228923

RCV001847981

RCV002518353

ClinVar Variation:

240933

HGVS (amino-acid)	Matching Registered Transcripts
NP_055670.1:p.Gly423Arg	CA4137705 NM_014855.3:c.1267G>A CA366662037 NM_014855.3:c.1267G>C