ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825446729
Gene: DIAPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464533
ClinVar RCV Id:
RCV001997981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073280.1:p.Pro667Ser
CA361519031
NM_001079812.3:c.1999C>T