Canonical Allele Identifier: PA173379
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159865
ClinVar RCV Id: RCV000147452 RCV000148825 RCV000990204 RCV001122766 RCV001122767 RCV001850001 RCV000721757
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile3253Thr
CA025003
NM_000540.3:c.9758T>C