ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112495
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449326
ClinVar RCV Id:
RCV000520544
RCV001384482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Ala618Thr
CA404041079
NM_001005360.3:c.1852G>A