Canonical Allele Identifier: PA645456177
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 382697
ClinVar RCV Id: RCV000440100 RCV001205044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr1711Ser
CA16607793
NM_000540.3:c.5132A>C