Canonical Allele Identifier: PA915962505
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133172
ClinVar RCV Id: RCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2280Ile
CA024651
NM_001042723.2:c.6838G>A