ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825760287
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
896081
ClinVar RCV Id:
RCV001138530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Leu2113Val
CA347227885
NM_001130981.2:c.6337C>G