ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA231759
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132988
ClinVar RCV Id:
RCV000119399
RCV001450000
RCV002492407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg3348His
CA023809
NM_000540.3:c.10043G>A