ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826949051
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1510543
ClinVar RCV Id:
RCV002013948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001300936.1:p.Pro689Arg
CA361518535
NM_001314007.2:c.2066C>G