ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172111
Gene: DNM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005361.1:p.Ser619Leu
CA172110
NM_001005361.3:c.1856C>T