Canonical Allele Identifier: PA2825200883
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480072
ClinVar RCV Id: RCV002021967 RCV002484914 RCV004011047
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr2543Ile
CA405671362
NM_000540.3:c.7628C>T