Allele Registry

Canonical Allele Identifier: PA658832894

Gene: PDZD7 HGNC NCBI

ClinVar RCV:

RCV000656353

RCV002536314

RCV004547829

ClinVar Variation:

545403

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182192.1:p.Gly228Arg	CA5654299 NM_001195263.2:c.682G>A CA378230170 NM_001195263.2:c.682G>C