Canonical Allele Identifier: PA2825748341
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471308
ClinVar RCV Id: RCV000552425 RCV000595695 RCV001274843 RCV001507565 RCV003960357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Val1490Ile
CA1707094
NM_001130976.2:c.4468G>A