ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825264671
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465286
ClinVar RCV Id:
RCV000526630
RCV002261106
RCV004024002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Val818Met
CA9201623
NM_001005360.3:c.2452G>A