ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825302325
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075091
ClinVar RCV Id:
RCV004015617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Glu2137Lys
CA345411482
NM_001035.3:c.6409G>A