ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825266804
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158513
ClinVar RCV Id:
RCV000145901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005362.1:p.Val375Glu
CA172095
NM_001005362.3:c.1124T>A