ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915962884
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
617753
ClinVar RCV Id:
RCV000754873
RCV001368744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Met3239Lys
CA074078
NM_001042723.2:c.9716T>A