ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827583772
Gene: PDZD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545399
ClinVar RCV Id:
RCV000656349
RCV001051892
RCV003989572
ClinVar Variation Id:
1904916
ClinVar RCV Id:
RCV002580496
JSON-LD
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