ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573248414
Gene: DIAPH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002005155
ClinVar Variation:
1473045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005210.3:p.Leu1261Phe
CA361571882
NM_005219.5:c.3781C>T