ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825766129
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281104
ClinVar RCV Id:
RCV000725163
RCV001085921
RCV003939934
RCV004021072
RCV001276862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg1804Trp
CA1707403
NM_001130984.2:c.5410C>T