ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741833822
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Arg1070Pro
CA347217058
NM_001130982.2:c.3209G>C