Canonical Allele Identifier: PA105979
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133062
ClinVar RCV Id: RCV000119504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4743Asp
CA024120
NM_000540.3:c.14228G>A