Canonical Allele Identifier: PA645477525
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290515
ClinVar RCV Id: RCV000333472 RCV000812750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Gln253His
CA10606797
NM_001130987.2:c.759G>C
CA347207711
NM_001130987.2:c.759G>T