Canonical Allele Identifier: PA2825195743
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173572
ClinVar RCV Id: RCV002581977 RCV004009440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile585Leu
CA405691608
NM_000540.3:c.1753A>C