ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827584037
Gene: PDZD7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000656351
ClinVar Variation:
545401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337973.1:p.Pro510Thr
CA378227926
NM_001351044.2:c.1528C>A