ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133632
Gene: PDZD7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44127
ClinVar RCV Id:
RCV000037103
RCV000712520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182192.1:p.Lys790Glu
CA133631
NM_001195263.2:c.2368A>G