Allele Registry

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Canonical Allele Identifier: PA2573170018

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1493691

ClinVar RCV Id: RCV001986672 RCV003130668

ClinVar Variation Id: 3070323

ClinVar RCV Id: RCV004011841

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Met4881Ile	CA061439 NM_000540.3:c.14643G>T CA405688158 NM_000540.3:c.14643G>C CA405688159 NM_000540.3:c.14643G>A