Canonical Allele Identifier: PA915961725
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590489
ClinVar RCV Id: RCV000721428 RCV001236004 RCV003999830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala612Thr
CA308125184
NM_001042723.2:c.1834G>A