ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA231845
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65943
ClinVar RCV Id:
RCV000056190
RCV000119489
RCV000687662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly4638Ser
CA024082
NM_000540.3:c.13912G>A