Canonical Allele Identifier: PA2825422972
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544455
ClinVar RCV Id: RCV000655602 RCV000721383 RCV001592838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4848Ile
CA405687698
NM_001042723.2:c.14543C>T