Canonical Allele Identifier: PA2825195765
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2005003
ClinVar RCV Id: RCV002828423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His592Asp
CA405691840
NM_000540.3:c.1774C>G