ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825763745
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554512
RCV001508442
RCV001834796
ClinVar Variation:
471314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg1699Cys
CA1707255
NM_001130983.2:c.5095C>T