ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825759923
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
21717
ClinVar RCV:
RCV000007065
ClinVar Variation:
6678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Glu1772Gly
CA253911
NM_001130981.2:c.5315A>G