Canonical Allele Identifier: PA2825758452
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 538630
ClinVar RCV Id: RCV000647995 RCV001835045 RCV003162956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg418Gln
CA1705662
NM_001130981.2:c.1253G>A