Canonical Allele Identifier: PA2825758672
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288438
ClinVar RCV Id: RCV000597376 RCV000726165 RCV001214514 RCV003469244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Gly638Arg
CA10606091
NM_001130981.2:c.1912G>A
CA347218631
NM_001130981.2:c.1912G>C