Canonical Allele Identifier: PA2827583772
Gene: PDZD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 545399
ClinVar Variation Id: 1904916
ClinVar RCV Id: RCV002580496

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337973.1:p.Gly103Arg
CA5654446
NM_001351044.2:c.307G>A
CA5654447
NM_001351044.2:c.307G>C