Canonical Allele Identifier: PA2825198090
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069713
ClinVar RCV Id: RCV004008257
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu1651Asp
CA405652533
NM_000540.3:c.4953G>C
CA405652537
NM_000540.3:c.4953G>T