ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826948933
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1045271
ClinVar RCV Id:
RCV001349654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001300936.1:p.Pro599Leu
CA361521138
NM_001314007.2:c.1796C>T