Canonical Allele Identifier: PA891865200
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590622
ClinVar RCV Id: RCV000721722 RCV001230557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2987Gln
CA072992
NM_000540.3:c.8959G>C