ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915962690
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
567003
ClinVar RCV Id:
RCV000686961
RCV002507192
RCV004004256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu2633Val
CA071011
NM_001042723.2:c.7897C>G