Canonical Allele Identifier: PA105458
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132997
ClinVar RCV Id: RCV000119414 RCV000203202 RCV000148796 RCV000209955 RCV001085699 RCV001802859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3539His
CA023847
NM_000540.3:c.10616G>A