Canonical Allele Identifier: PA2825422924
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133070
ClinVar RCV Id: RCV000119517 RCV000545453 RCV001802863
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu4819Pro
CA024148
NM_001042723.2:c.14456T>C