Canonical Allele Identifier: PA231859
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65996
ClinVar RCV Id: RCV000056243 RCV000119498 RCV000191124 RCV000555087 RCV000763429 RCV001129440 RCV001814038 RCV002262610 RCV003224129
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4709Met
CA024104
NM_000540.3:c.14126C>T