Canonical Allele Identifier: PA248352
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199248
ClinVar RCV Id: RCV000180769 RCV000622827 RCV000810031 RCV001193858 RCV002492795 RCV003996590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4735Trp
CA024114
NM_000540.3:c.14203C>T