ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477693
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Thr1323Lys
CA1706829
NM_001130987.2:c.3968C>A