Canonical Allele Identifier: PA2573180179
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1368612
ClinVar RCV Id: RCV001867581 RCV002478172 RCV003132578
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2385Cys
CA069185
NM_001042723.2:c.7153C>T