ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825266929
Gene: DNM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413442
ClinVar Variation:
373110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005362.1:p.Arg518Leu
CA16043072
NM_001005362.3:c.1553G>T