Allele Registry

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Canonical Allele Identifier: PA2825422824

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544507

ClinVar RCV Id: RCV000655690

ClinVar Variation Id: 544520

ClinVar RCV Id: RCV000721358 RCV001465780

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ala4748Thr	CA061015 NM_001042723.2:c.14242G>A CA658799221 NM_001042723.2:c.14241_14242delinsCA