Canonical Allele Identifier: PA891865102
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590489
ClinVar RCV Id: RCV000721428 RCV001236004 RCV003999830
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala612Thr
CA308125184
NM_000540.3:c.1834G>A