ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112540
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158514
ClinVar RCV Id:
RCV000145903
RCV000275646
RCV000552861
RCV000679888
RCV002252002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Arg522His
CA172101
NM_001005360.3:c.1565G>A