ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825202230
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073205
ClinVar RCV Id:
RCV004015219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Pro3241Ser
CA074083
NM_000540.3:c.9721C>T