ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825756348
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
535273
ClinVar RCV:
RCV000656079
RCV001089586
RCV001220606
ClinVar Variation:
545009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Leu573Pro
CA1705913
NM_001130980.2:c.1718T>C