Canonical Allele Identifier: PA2825422633
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161377
ClinVar RCV Id: RCV000148828 RCV000721333 RCV001450007 RCV001850019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4582Leu
CA024070
NM_001042723.2:c.13745C>T