Canonical Allele Identifier: PA2825200836
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070025
ClinVar RCV Id: RCV004010057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2516Glu
CA405670440
NM_000540.3:c.7548C>A
CA405670441
NM_000540.3:c.7548C>G