Canonical Allele Identifier: PA231816
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12981
ClinVar RCV Id: RCV000013851 RCV000119463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4214_Phe4216del
CA023997
NM_000540.3:c.12640_12648del