ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891851953
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
573252
ClinVar RCV Id:
RCV000694878
RCV001592885
RCV003159153
RCV003235355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2359Gln
CA405667952
NM_000540.3:c.7076G>A