Canonical Allele Identifier: PA2499233181
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1031613
ClinVar RCV Id: RCV001333505 RCV001871849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly4398Arg
CA405674177
NM_000540.3:c.13192G>A
CA405674178
NM_000540.3:c.13192G>C