Canonical Allele Identifier: PA645456266
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430525
ClinVar RCV Id: RCV000493566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser2374Leu
CA405668238
NM_000540.3:c.7121C>T