ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915962489
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224388
ClinVar RCV Id:
RCV000209961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr2230Ser
CA211969
NM_001042723.2:c.6688A>T