ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA132993
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036777
RCV000171764
RCV000620555
RCV000766718
RCV000769789
RCV001099125
ClinVar Variation:
43813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val2113Met
CA010110
NM_001035.3:c.6337G>A