Canonical Allele Identifier: PA2825767498
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336964
ClinVar RCV Id: RCV000278825 RCV000373211 RCV001140034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Thr1054Ile
CA1706444
NM_001130985.2:c.3161C>T