ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825421223
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071331
ClinVar RCV Id:
RCV004014833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro3302Leu
CA308129952
NM_001042723.2:c.9905C>T