ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118654
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7277
ClinVar RCV Id:
RCV000007700
RCV000789618
RCV003447076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005361.1:p.Lys562Glu
CA118652
NM_001005361.3:c.1684A>G