ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573248362
Gene: DIAPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Gln1074Glu
CA128424475
NM_005219.5:c.3220C>G