Canonical Allele Identifier: PA2825751270
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 502553
ClinVar RCV Id: RCV000596018 RCV000814681 RCV001829688 RCV002532670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Asn43Lys
CA1705231
NM_001130978.2:c.129C>A
CA347216072
NM_001130978.2:c.129C>G