ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825750060
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003738749
ClinVar Variation:
2912979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Arg1024Pro
CA347217058
NM_001130977.2:c.3071G>C