ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825751903
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195598
ClinVar RCV Id:
RCV000292466
RCV000328757
RCV000487642
RCV001085988
RCV001563948
RCV001563950
RCV001563949
RCV003416078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Lys656Glu
CA242074
NM_001130978.2:c.1966A>G