Canonical Allele Identifier: PA106085
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133018
ClinVar RCV Id: RCV000119438 RCV001580417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile3916Met
CA023930
NM_000540.3:c.11748T>G