Canonical Allele Identifier: PA2825201253
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435592
ClinVar RCV Id: RCV003130463
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2623Phe
CA405673763
NM_000540.3:c.7869G>C
CA405673776
NM_000540.3:c.7869G>T