ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826599839
Gene: DNM1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
253262
ClinVar RCV Id:
RCV000239681
RCV001557633
RCV003897583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265393.1:p.Gly375Ser
CA10586276
NM_001278464.2:c.1123G>A