Canonical Allele Identifier: PA915961671
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451318
ClinVar RCV Id: RCV000521470 RCV001857999 RCV002506275
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu521Phe
CA062105
NM_001042723.2:c.1561C>T