ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825420227
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072106
ClinVar RCV Id:
RCV004012136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.His1664Tyr
CA405652890
NM_001042723.2:c.4990C>T