ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573248196
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517674
ClinVar RCV Id:
RCV002027530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Ile675Val
CA361519053
NM_005219.5:c.2023A>G