Canonical Allele Identifier: PA2573180031
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414780
ClinVar RCV Id: RCV001945381 RCV002484492 RCV004010872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1795Leu
CA024518
NM_001042723.2:c.5384C>T