Canonical Allele Identifier: PA2829467230
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 285200
ClinVar RCV Id: RCV000310622 RCV000803161 RCV001833347 RCV003463758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Pro1024Leu
CA1706435
NM_003494.4:c.3071C>T