ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825195638
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
808532
ClinVar RCV Id:
RCV000996859
RCV001858845
RCV004004444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg530Cys
CA062167
NM_000540.3:c.1588C>T