ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658804775
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544417
ClinVar RCV Id:
RCV000655550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Pro2616Arg
CA405673568
NM_000540.3:c.7847C>G