Allele Registry

Canonical Allele Identifier: PA345964

Gene: AP4B1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

167572

515015

ClinVar RCV:

RCV000145022

RCV000649276

RCV001797056

RCV001849319

RCV002514784

ClinVar Variation:

157724

539526

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006585.2:p.Val193Ile	CA345963 NM_006594.5:c.577G>A CA658795505 NM_006594.5:c.576_577delinsTA