Canonical Allele Identifier: PA915962500
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 568375
ClinVar RCV Id: RCV000688714
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp2252Glu
CA068644
NM_001042723.2:c.6756C>A
CA405666356
NM_001042723.2:c.6756C>G