Canonical Allele Identifier: PA891852114
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567660
ClinVar RCV Id: RCV000687813 RCV002227487 RCV003133516
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4414Glu
CA308109596
NM_000540.3:c.13242C>G
CA405674577
NM_000540.3:c.13242C>A