Canonical Allele Identifier: PA2825422945
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590454
ClinVar RCV Id: RCV000721375 RCV001580414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gln4832Glu
CA405687465
NM_001042723.2:c.14494C>G