ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422722
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65951
ClinVar RCV Id:
RCV000056198
RCV000119494
RCV003591653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.His4646Pro
CA024093
NM_001042723.2:c.13937A>C