ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973900
Gene: DYSF
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001124454.1:p.Arg1078His
NM_001130982.2:c.3233G>A