ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825198457
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444529
ClinVar RCV Id:
RCV001982461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg1759Gln
CA066838
NM_000540.3:c.5276G>A