Canonical Allele Identifier: PA2829468652
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 538624
ClinVar RCV Id: RCV000647987 RCV001276860 RCV003144428
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1749His
CA1707346
NM_003494.4:c.5246G>A