Canonical Allele Identifier: PA2825422348
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479239
ClinVar RCV Id: RCV002009751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4379Leu
CA405673743
NM_001042723.2:c.13136C>T