Canonical Allele Identifier: PA2825422794
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571399
ClinVar RCV Id: RCV000692536 RCV000764200 RCV003133534 RCV003999585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val4720Leu
CA308120058
NM_001042723.2:c.14158G>C