ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826469494
Gene: DIAPH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245296.1:p.Pro550Leu
CA6996579
NM_001258367.2:c.1649C>T