Canonical Allele Identifier: PA106549
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12984
ClinVar RCV Id: RCV000013856 RCV000013855 RCV000119527 RCV000990211 RCV001060435 RCV001787789 RCV001787794 RCV001787790 RCV001787791 RCV001787792 RCV001787793 RCV001787795 RCV004017242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val4849Ile
CA024171
NM_000540.3:c.14545G>A