Canonical Allele Identifier: PA2825422701
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501956
ClinVar RCV Id: RCV000593975 RCV001339636 RCV004024834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4637Ala
CA060649
NM_001042723.2:c.13909C>G