ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891861143
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Arg1756Gln
CA49767324
NM_001130987.2:c.5267G>A