ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825761379
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471310
ClinVar RCV Id:
RCV000732545
RCV000559661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Ala1591Thr
CA1707145
NM_001130982.2:c.4771G>A