ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825200515
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
841702
ClinVar RCV Id:
RCV001043972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Phe2340Ile
CA405667489
NM_000540.3:c.7018T>A