ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825263794
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423594
ClinVar RCV Id:
RCV000481918
RCV001856877
RCV002367655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Pro226Leu
CA9200855
NM_001005360.3:c.677C>T