ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112517
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7280
ClinVar RCV Id:
RCV000007703
RCV000145899
RCV000641108
RCV001027496
RCV001537068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Arg369Trp
CA118658
NM_001005360.3:c.1105C>T