ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422389
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579628
ClinVar RCV Id:
RCV000702965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu4405Gln
CA059663
NM_001042723.2:c.13213G>C