Canonical Allele Identifier: PA658804767
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544448
ClinVar RCV Id: RCV000655593 RCV001125554 RCV001125555 RCV002275123 RCV002507140
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2421Ser
CA069413
NM_000540.3:c.7261G>T