ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092837
Gene: PLD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001026866.1:p.Val232Met
NM_001031696.4:c.694G>A