Canonical Allele Identifier: PA915959494
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 639771
ClinVar RCV Id: RCV000792666 RCV003133599 RCV002493443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4412Thr
CA059673
NM_000540.3:c.13234G>A