ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825421844
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119447
RCV001787937
RCV001787938
RCV001787939
RCV001787940
RCV001787941
RCV001787942
RCV001787943
RCV002281939
RCV004017405
ClinVar Variation:
133027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly3985Val
CA023953
NM_001042723.2:c.11954G>T