Canonical Allele Identifier: PA2825695223
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94331
ClinVar RCV Id: RCV000080297 RCV000548178 RCV001271548 RCV002222381 RCV003466986 RCV004549503
ClinVar Variation Id: 2418333
ClinVar RCV Id: RCV003121082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Lys1599Asn
CA222176
NM_001130455.2:c.4797G>T
CA1707167
NM_001130455.2:c.4797G>C