Canonical Allele Identifier: PA2825195593
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074104
ClinVar RCV Id: RCV004012646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr496His
CA405688737
NM_000540.3:c.1486T>C