Canonical Allele Identifier: PA231801
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133032
ClinVar RCV Id: RCV000119454 RCV000148812 RCV001217179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4041Trp
CA023969
NM_000540.3:c.12121C>T