Canonical Allele Identifier: PA2829468541
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 498372
ClinVar RCV Id: RCV000595675 RCV001243854 RCV001829645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Gln1700Leu
CA1707293
NM_003494.4:c.5099A>T