ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422352
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1039244
ClinVar RCV Id:
RCV001342683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser4383Gly
CA405673830
NM_001042723.2:c.13147A>G