ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825446448
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194639
ClinVar RCV Id:
RCV000221724
RCV000724127
RCV001082786
RCV001151711
RCV003917622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073280.1:p.Arg570His
CA240726
NM_001079812.3:c.1709G>A