Canonical Allele Identifier: PA106390
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12978
ClinVar RCV Id: RCV000013847 RCV000119520 RCV001787768 RCV001787769 RCV001787770 RCV001787771 RCV001787772 RCV001787774 RCV001787773 RCV003591630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4826Ile
CA024154
NM_000540.3:c.14477C>T