ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658681492
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000521452
RCV001190504
RCV002481695
RCV002525113
RCV004003599
ClinVar Variation:
449305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser406Leu
CA085140
NM_001035.3:c.1217C>T