Canonical Allele Identifier: PA2825198419
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071100
ClinVar RCV Id: RCV004014602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1746Phe
CA066793
NM_000540.3:c.5236C>T