Canonical Allele Identifier: PA2825754523
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282765
ClinVar RCV Id: RCV000270967 RCV000325795 RCV000725139 RCV001084284 RCV001272823 RCV003920053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Lys1014Thr
CA1706371
NM_001130979.2:c.3041A>C