Allele Registry

Canonical Allele Identifier: PA645478606

Gene: DNM2 HGNC NCBI

ClinVar RCV:

RCV000236107

RCV002518442

ClinVar Variation:

246082

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005361.1:p.Glu560Lys	CA10584608 NM_001005361.3:c.1678G>A