Canonical Allele Identifier: PA2580129432
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2081053
ClinVar RCV Id: RCV002993987 RCV003134582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser3978Gly
CA057930
NM_000540.3:c.11932A>G