Canonical Allele Identifier: PA2825770604
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 693999
ClinVar RCV Id: RCV000855417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Trp1805Cys
CA347222737
NM_001130986.2:c.5415G>C
CA347222740
NM_001130986.2:c.5415G>T