ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478589
Gene: DNM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005361.1:p.Ser357Phe
NM_001005361.3:c.1070C>T