ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825693812
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176395
RCV000765697
RCV001085145
RCV001271790
ClinVar Variation:
195749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Gly762Ser
CA242326
NM_001130455.2:c.2284G>A