Canonical Allele Identifier: PA105202
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65926
ClinVar RCV Id: RCV000056173 RCV000119555 RCV002513729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4906Val
CA024241
NM_000540.3:c.14717C>T