ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741826631
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2862303
ClinVar RCV Id:
RCV003757833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu538His
CA405689902
NM_001042723.2:c.1613T>A