Canonical Allele Identifier: PA232043
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133167
ClinVar RCV Id: RCV000119665 RCV001234043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2212Ala
CA024631
NM_000540.3:c.6635T>C