Canonical Allele Identifier: PA2825762584
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 281014
ClinVar RCV Id: RCV000274204 RCV000710126 RCV001084090 RCV001329088 RCV003920032
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Met627Thr
CA1705983
NM_001130983.2:c.1880T>C