Canonical Allele Identifier: PA2825767478
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284003
ClinVar RCV Id: RCV000313635 RCV000666376 RCV000701610 RCV002494839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Pro1038Leu
CA1706432
NM_001130985.2:c.3113C>T