ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825770862
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Ala2053Val
CA10605966
NM_001130986.2:c.6158C>T