Canonical Allele Identifier: PA232106
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65933
ClinVar RCV Id: RCV000056180 RCV000119724 RCV002513731
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2545Asp
CA024839
NM_000540.3:c.7635G>C
CA405671402
NM_000540.3:c.7635G>T