Canonical Allele Identifier: PA915962228
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374135
ClinVar RCV Id: RCV000487533 RCV000415245 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala1372Val
CA065572
NM_001042723.2:c.4115C>T