Canonical Allele Identifier: PA891865258
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590411

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4218Leu
CA405670843
NM_000540.3:c.12652T>C
CA405670848
NM_000540.3:c.12654C>A
CA405670849
NM_000540.3:c.12654C>G