Canonical Allele Identifier: PA658680746
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478239
ClinVar RCV Id: RCV000527642 RCV001770499 RCV002527956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr183Ile
CA067179
NM_000540.3:c.548C>T