ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658674721
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471311
ClinVar RCV Id:
RCV000558437
RCV000592365
RCV001271549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Ile1646Val
CA1707194
NM_001130987.2:c.4936A>G