Canonical Allele Identifier: PA2825195683
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072388
ClinVar RCV Id: RCV004013410

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu553Met
CA405690435
NM_000540.3:c.1657C>A