ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825752634
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2199498
ClinVar RCV Id:
RCV002659668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Glu1294Lys
CA1706801
NM_001130978.2:c.3880G>A