Canonical Allele Identifier: PA916007372
Gene: RYR3 HGNC NCBI
ClinVar RCV:
RCV000637113
ClinVar Variation:
531003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230925.1:p.Arg140Trp
CA7457809
NM_001243996.4:c.418C>T