Canonical Allele Identifier: PA2825768539
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 381677
ClinVar RCV Id: RCV000424011 RCV000671182 RCV001861509 RCV003470383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Pro1988Ser
CA16604254
NM_001130985.2:c.5962C>T