Canonical Allele Identifier: PA2825200514
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213821

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe2340Leu
CA308107330
NM_000540.3:c.7020C>G
CA405667490
NM_000540.3:c.7018T>C
CA405667498
NM_000540.3:c.7020C>A