ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825752089
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080253
RCV000326704
RCV000381491
RCV000528879
RCV001274456
RCV001795100
ClinVar Variation:
94289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ile834Val
CA147734
NM_001130978.2:c.2500A>G