Canonical Allele Identifier: PA658668497
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478183
ClinVar RCV Id: RCV000549587 RCV000780690 RCV002483513 RCV002510921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4444_Gly4450dup
CA507355949
NM_000540.3:c.13331_13351dup