ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826162696
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246310
ClinVar RCV Id:
RCV000727032
RCV001084696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177645.1:p.Thr280Met
CA9200897
NM_001190716.1:c.839C>T