ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826600548
Gene: DNM1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414839
ClinVar Variation:
374321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265394.1:p.Glu392Lys
CA16043679
NM_001278465.2:c.1174G>A