Canonical Allele Identifier: PA1139678235
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 841741
ClinVar RCV Id: RCV001044027 RCV004004765
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr564His
CA062346
NM_001042723.2:c.1690T>C