Canonical Allele Identifier: PA2825198827
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003696
ClinVar RCV Id: RCV001300285 RCV002541922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val1845Leu
CA405656049
NM_000540.3:c.5533G>C
CA405656053
NM_000540.3:c.5533G>T