Canonical Allele Identifier: PA915961694
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133104
ClinVar RCV Id: RCV000119579 RCV001580394 RCV001214522
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe539Leu
CA024297
NM_001042723.2:c.1615T>C
CA405689937
NM_001042723.2:c.1617C>G
CA405689939
NM_001042723.2:c.1617C>A