Canonical Allele Identifier: PA915962345
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329035
ClinVar RCV Id: RCV000265956 RCV000270216 RCV000308884 RCV000365875 RCV000868676 RCV003221924
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1774Leu
CA066879
NM_001042723.2:c.5321C>T