ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422925
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
839243
ClinVar RCV Id:
RCV001040954
RCV002481884
RCV003130110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg4820His
CA061315
NM_001042723.2:c.14459G>A