Canonical Allele Identifier: PA1139673050
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 892731
ClinVar RCV Id: RCV001129235 RCV001129236 RCV001131927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4364Ala
CA405673420
NM_000540.3:c.13091G>C