ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752336
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282449
ClinVar RCV Id:
RCV000351237
RCV000665378
RCV001297834
RCV003469226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg1039Trp
CA1706450
NM_001130978.2:c.3115C>T