ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825200891
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073408
ClinVar RCV Id:
RCV004016414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Met2546Thr
CA405671419
NM_000540.3:c.7637T>C