Canonical Allele Identifier: PA2825422321
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590423
ClinVar RCV Id: RCV000721304 RCV001129231 RCV001129230 RCV001129229 RCV001344994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser4356Thr
CA059555
NM_001042723.2:c.13066T>A