ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829619082
Gene: DNM1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414839
ClinVar Variation:
374321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005681.2:p.Glu379Lys
CA16043679
NM_005690.5:c.1135G>A