Canonical Allele Identifier: PA105949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12969
ClinVar RCV Id: RCV000013836 RCV000119406 RCV000655541
ClinVar Variation Id: 132992
ClinVar RCV Id: RCV000119407 RCV002051810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly341Arg
CA023827
NM_000540.3:c.1021G>A
CA023828
NM_000540.3:c.1021G>C