ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741834255
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Leu1998Pro
CA347226445
NM_001130987.2:c.5993T>C