Canonical Allele Identifier: PA2825201064
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072629
ClinVar RCV Id: RCV004013651
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser2590Phe
CA070200
NM_000540.3:c.7769C>T