ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825201260
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1709285
ClinVar RCV Id:
RCV002289100
RCV004005594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2624Pro
CA405673797
NM_000540.3:c.7871G>C