ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139684870
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
896081
ClinVar RCV Id:
RCV001138530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Leu2114Val
CA347227885
NM_001130987.2:c.6340C>G