ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825420804
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071160
ClinVar RCV Id:
RCV004014662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu2583Gln
CA405671909
NM_001042723.2:c.7748T>A