Canonical Allele Identifier: PA2825204858
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072999
ClinVar RCV Id: RCV004015013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4764Arg
CA061048
NM_000540.3:c.14290G>C
CA405684817
NM_000540.3:c.14290G>A