Canonical Allele Identifier: PA658668673
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448180
ClinVar RCV Id: RCV000518304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln4934His
CA405691200
NM_000540.3:c.14802G>C
CA405691202
NM_000540.3:c.14802G>T