ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915962162
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433176
ClinVar RCV Id:
RCV000498485
RCV001865575
RCV002051859
RCV004003509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Arg1075Gln
CA064575
NM_001042723.2:c.3224G>A