ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757152
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284252
ClinVar RCV Id:
RCV000316493
RCV001855139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Leu1287Arg
CA10604735
NM_001130980.2:c.3860T>G