ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139696954
Gene: DNM1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317309.1:p.Glu423Lys
CA384358359
NM_001330380.2:c.1267G>A