Canonical Allele Identifier: PA306768
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 201154
ClinVar RCV Id: RCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687
ClinVar Variation Id: 2760740
ClinVar RCV Id: RCV003591571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4976Leu
CA024278
NM_000540.3:c.14928C>G
CA308126717
NM_000540.3:c.14928C>A
CA405693071
NM_000540.3:c.14926T>C