ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573248195
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1475017
ClinVar RCV Id:
RCV001973803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Thr673Ile
CA361519081
NM_005219.5:c.2018C>T