Canonical Allele Identifier: PA240280
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 194354
ClinVar RCV Id: RCV000174707 RCV000674572 RCV003468855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Leu448Pro
CA240279
NM_001130978.2:c.1343T>C