Canonical Allele Identifier: PA2825201089
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767017
ClinVar RCV Id: RCV003592135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2595Phe
CA405672126
NM_000540.3:c.7783C>T