ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422862
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075094
ClinVar RCV Id:
RCV004015620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly4777Glu
CA405685316
NM_001042723.2:c.14330G>A