Canonical Allele Identifier: PA2825754002
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283459
ClinVar RCV Id: RCV000269469 RCV000330051 RCV000361672 RCV000525084 RCV001274442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Arg493His
CA1705768
NM_001130979.2:c.1478G>A