ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580331706
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2098991
ClinVar RCV Id:
RCV003021495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Pro692Arg
CA361518463
NM_005219.5:c.2075C>G