Canonical Allele Identifier: PA2825763742
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288630
ClinVar RCV Id: RCV000310014 RCV000362344 RCV000388999 RCV000493108 RCV001079670 RCV000986770 RCV001526431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Ala1698Ser
CA1707253
NM_001130983.2:c.5092G>T