Canonical Allele Identifier: PA2829466253
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2162951
ClinVar RCV Id: RCV003070508 RCV003143482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Met394Leu
CA16609661
NM_003494.4:c.1180A>C
CA347213685
NM_003494.4:c.1180A>T