ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825195217
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3157343
ClinVar RCV Id:
RCV004447186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp238Gly
CA405679823
NM_000540.3:c.713A>G