ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825757519
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Thr1639Lys
CA1707203
NM_001130980.2:c.4916C>A