Canonical Allele Identifier: PA242773
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196022
ClinVar RCV Id: RCV000367959 RCV000403556 RCV000725533 RCV001079396 RCV001272822 RCV001449649 RCV001810433 RCV004552986
ClinVar Variation Id: 1532369
ClinVar RCV Id: RCV002085001
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Met968Leu
CA242772
NM_003494.4:c.2902A>T
CA1706338
NM_003494.4:c.2902A>C