Canonical Allele Identifier: PA231849
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133053
ClinVar RCV Id: RCV000119491 RCV000454682 RCV000525051 RCV001129438 RCV000990210 RCV001129439 RCV001449978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4645Gln
CA024086
NM_000540.3:c.13934G>A