ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580122872
Gene: RYR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1997174
ClinVar RCV Id:
RCV002807315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Phe4174Tyr
CA345413538
NM_001035.3:c.12521T>A