ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA306846
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201243
ClinVar RCV Id:
RCV000182718
RCV000768529
RCV001182511
RCV002517790
RCV003996755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Tyr1337Cys
CA009427
NM_001035.3:c.4010A>G