ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825264474
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465284
ClinVar RCV Id:
RCV000547445
RCV000834573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Val744Ala
CA9201548
NM_001005360.3:c.2231T>C