Canonical Allele Identifier: PA105798
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133219
ClinVar RCV Id: RCV000119740 RCV001802878
ClinVar Variation Id: 2028671
ClinVar RCV Id: RCV002876256
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp2730Gly
CA024896
NM_000540.3:c.8189A>G
CA2580097229
NM_000540.3:c.8189_8190delinsGC