Canonical Allele Identifier: PA2825200104
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1934174
ClinVar RCV Id: RCV002631738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn2196Lys
CA405665727
NM_000540.3:c.6588C>A
CA405665730
NM_000540.3:c.6588C>G