ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172100
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7281
ClinVar RCV Id:
RCV000007704
RCV000145902
RCV000373773
RCV000641110
RCV001813964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005362.1:p.Arg465Trp
CA172098
NM_001005362.3:c.1393C>T