ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573169844
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1352926
ClinVar RCV Id:
RCV002040045
RCV002489947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu4390Gln
CA405673905
NM_000540.3:c.13168G>C