Canonical Allele Identifier: PA2829468343
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290187
ClinVar RCV Id: RCV000348647 RCV002494891 RCV001833403 RCV001240482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Thr1622Met
CA1707202
NM_003494.4:c.4865C>T