Canonical Allele Identifier: PA2825420334
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069294
ClinVar RCV Id: RCV004007838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met1814Ile
CA081788
NM_001042723.2:c.5442G>A
CA405655324
NM_001042723.2:c.5442G>C
CA405655327
NM_001042723.2:c.5442G>T