Canonical Allele Identifier: PA106381
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12992
ClinVar RCV Id: RCV000013864 RCV000119487 RCV001851836 RCV001824568
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4637Ala
CA024078
NM_000540.3:c.13909A>G