Canonical Allele Identifier: PA2825770532
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 197566
ClinVar RCV Id: RCV000178627 RCV003165373 RCV001826908 RCV000813699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Gln1745Glu
CA245812
NM_001130986.2:c.5233C>G