ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825763177
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000523566
RCV001142639
RCV001829492
ClinVar Variation:
450303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg1152Cys
CA1706610
NM_001130983.2:c.3454C>T