ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825769746
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2441152
ClinVar RCV Id:
RCV003146981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Gln1039Lys
CA347217130
NM_001130986.2:c.3115C>A