Canonical Allele Identifier: PA645477640
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 167021
ClinVar RCV Id: RCV000153178 RCV000668306 RCV003462058 RCV003329115
ClinVar Variation Id: 285702
ClinVar RCV Id: RCV000331425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Trp948Cys
CA233931
NM_001130987.2:c.2844G>C
CA10605211
NM_001130987.2:c.2844G>T