ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422857
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073478
ClinVar RCV Id:
RCV004016484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Tyr4771His
CA405685165
NM_001042723.2:c.14311T>C