Canonical Allele Identifier: PA221129
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93272
ClinVar RCV Id: RCV000079149

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1770Leu
CA024504
NM_000540.3:c.5309C>T