ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573179551
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482061
ClinVar RCV Id:
RCV001994401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu528Ile
CA405689608
NM_001042723.2:c.1582C>A