Canonical Allele Identifier: PA891865294
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590453
ClinVar RCV Id: RCV000721371 RCV001449982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4820Arg
CA405687229
NM_000540.3:c.14458G>A
CA405687232
NM_000540.3:c.14458G>C