Canonical Allele Identifier: PA2825763591
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94327
ClinVar RCV Id: RCV000193503 RCV000560015 RCV001271544 RCV001719835 RCV003398673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Lys1548Thr
CA207041
NM_001130983.2:c.4643A>C