ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741840847
Gene: PDZD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182192.1:p.Asn749Thr
CA378224823
NM_001195263.2:c.2246A>C