Canonical Allele Identifier: PA915962673
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478280
ClinVar RCV Id: RCV000525755 RCV000721676 RCV002483519 RCV003999516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2615His
CA070820
NM_001042723.2:c.7844G>A