Canonical Allele Identifier: PA2825422129
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133040
ClinVar RCV Id: RCV000119464 RCV001450005 RCV003993811 RCV003591680
ClinVar Variation Id: 1071064
ClinVar RCV Id: RCV001383437 RCV001580405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val4229Leu
CA024001
NM_001042723.2:c.12685G>C
CA405670953
NM_001042723.2:c.12685G>T