ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825423041
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056199
RCV000119542
RCV004528261
ClinVar Variation:
65952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.His4882Tyr
CA024212
NM_001042723.2:c.14644C>T