ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700862
Gene: DIAPH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001244153
ClinVar Variation:
968913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Thr532Ile
CA361523327
NM_005219.5:c.1595C>T