Canonical Allele Identifier: PA2825758645
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2688995
ClinVar RCV Id: RCV003490732

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Lys608Asn
CA347218349
NM_001130981.2:c.1824G>C
CA347218350
NM_001130981.2:c.1824G>T