ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825422359
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038407
ClinVar RCV Id:
RCV001341707
RCV003490204
RCV004035970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly4388Ser
CA405674028
NM_001042723.2:c.13162G>A