ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825201171
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1021732
ClinVar RCV Id:
RCV001321538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ile2614Asn
CA405673525
NM_000540.3:c.7841T>A