Canonical Allele Identifier: PA2825200805
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 656103
ClinVar RCV Id: RCV000812430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys2499Asn
CA405670329
NM_000540.3:c.7497G>C
CA405670330
NM_000540.3:c.7497G>T