ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825759480
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000812166
RCV001089590
RCV001830775
RCV003461204
ClinVar Variation:
655896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Glu1352Lys
CA1706854
NM_001130981.2:c.4054G>A