ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580146994
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435611
ClinVar RCV Id:
RCV003142713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ile2512Met
CA405670409
NM_001042723.2:c.7536C>G