Canonical Allele Identifier: PA2825692835
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2716505
ClinVar RCV Id: RCV003577801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Val131Leu
CA347205458
NM_001130455.2:c.391G>C
CA347205459
NM_001130455.2:c.391G>T