Canonical Allele Identifier: PA2825200116
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074309
ClinVar RCV Id: RCV004012851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2200Pro
CA405665786
NM_000540.3:c.6598G>C