ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825749536
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289490
ClinVar RCV Id:
RCV000389310
RCV000726337
RCV001271778
RCV001850449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Arg539Cys
CA1705911
NM_001130977.2:c.1615C>T