ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825757222
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280068
ClinVar RCV Id:
RCV000408314
RCV000802767
RCV001804995
RCV003469216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg1359Trp
CA1706889
NM_001130980.2:c.4075C>T