Canonical Allele Identifier: PA658832892
Gene: PDZD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 545399
ClinVar RCV Id: RCV000656349 RCV001051892 RCV003989572
ClinVar Variation Id: 1904916
ClinVar RCV Id: RCV002580496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182192.1:p.Gly103Arg
CA5654446
NM_001195263.2:c.307G>A
CA5654447
NM_001195263.2:c.307G>C