ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826200612
Gene: PDZD7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182192.1:p.Arg164Trp
CA5654372
NM_001195263.2:c.490C>T