Canonical Allele Identifier: PA2825422776
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_001036188.1:p.Thr4704Met
CA024104
NM_001042723.2:c.14111C>T