ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825753048
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288830
ClinVar RCV Id:
RCV000370944
RCV002518057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Cys1699Tyr
CA10606239
NM_001130978.2:c.5096G>A