ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825760032
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538643
ClinVar RCV Id:
RCV000648015
RCV001276864
RCV002222581
RCV003144430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Thr1869Met
CA1707445
NM_001130981.2:c.5606C>T