ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825201089
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2767017
ClinVar RCV Id:
RCV003592135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Leu2595Phe
CA405672126
NM_000540.3:c.7783C>T