ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915961449
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119619
RCV001588946
ClinVar Variation:
133132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gln155Lys
CA024451
NM_001042723.2:c.463C>A