Canonical Allele Identifier: PA211764
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93252
ClinVar RCV Id: RCV000180740 RCV000148789 RCV000415198 RCV000287126 RCV000584956 RCV001080400 RCV001796962 RCV002477227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4505His
CA024057
NM_000540.3:c.13513G>C