Canonical Allele Identifier: PA2825194910
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 842174
ClinVar RCV Id: RCV001044552 RCV002290569 RCV002489586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp17Asn
CA066584
NM_000540.3:c.49G>A