Canonical Allele Identifier: PA915963019
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12991
ClinVar RCV Id: RCV000119408 RCV003996095 RCV000013863
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser3448Phe
CA023832
NM_001042723.2:c.10343C>T