ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825764358
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94343
ClinVar RCV Id:
RCV000080309
RCV000373692
RCV000316737
RCV000546064
RCV001273966
RCV001795107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Leu190Val
CA147767
NM_001130984.2:c.568C>G