ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825202244
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1962225
ClinVar RCV Id:
RCV002735041
RCV004007561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp3252Asn
CA405691833
NM_000540.3:c.9754G>A