ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825759417
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284252
ClinVar RCV Id:
RCV000316493
RCV001855139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Leu1287Arg
CA10604735
NM_001130981.2:c.3860T>G