Canonical Allele Identifier: PA2829469124
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 288412
ClinVar RCV Id: RCV000294790 RCV000310459 RCV000373089 RCV001087591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Ser1995Arg
CA1707595
NM_003494.4:c.5983A>C
CA347226769
NM_003494.4:c.5985T>G
CA347226770
NM_003494.4:c.5985T>A