Canonical Allele Identifier: PA2825695659
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94340
ClinVar RCV Id: RCV000178688 RCV000790680 RCV001384247 RCV001814049 RCV003466987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Asp1838Asn
CA222190
NM_001130455.2:c.5512G>A