ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826162782
Gene: DNM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001902272
ClinVar Variation:
1363462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177645.1:p.Val375Ala
CA404048089
NM_001190716.1:c.1124T>C