ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222153
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001124450.1:p.Arg1046His
NM_001130978.2:c.3137G>A