ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915961697
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
638502
ClinVar RCV Id:
RCV000791180
RCV004001553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu543Val
CA308123344
NM_001042723.2:c.1627T>G