ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573241471
Gene: DNM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004936.2:p.Pro226Ser
CA9200854
NM_004945.4:c.676C>T