ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825693904
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497312
ClinVar RCV Id:
RCV000596941
RCV000817716
RCV001829634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Arg820Gln
CA1706192
NM_001130455.2:c.2459G>A