Canonical Allele Identifier: PA1139673108
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955384
ClinVar RCV Id: RCV001228015 RCV003132304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln4395Pro
CA405674092
NM_000540.3:c.13184A>C