ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825757210
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94315
ClinVar RCV Id:
RCV000080281
RCV000530026
RCV001271531
RCV001795103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg1348Leu
CA147753
NM_001130980.2:c.4043G>T