Canonical Allele Identifier: PA2825201236
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1428127
ClinVar RCV Id: RCV001936145 RCV004010919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His2621Tyr
CA070877
NM_000540.3:c.7861C>T