ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741916739
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2939836
ClinVar RCV Id:
RCV003795002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Ser668Phe
CA361519253
NM_005219.5:c.2003C>T