Allele Registry

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Canonical Allele Identifier: PA2741827367

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2571041

ClinVar RCV Id: RCV003312442

ClinVar Variation Id: 3075491

ClinVar RCV Id: RCV004017009

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Lys1843Asn	CA405656005 NM_001042723.2:c.5529G>C CA405656007 NM_001042723.2:c.5529G>T