Canonical Allele Identifier: PA891852154
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571399
ClinVar RCV Id: RCV000692536 RCV000764200 RCV003133534 RCV003999585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val4725Leu
CA308120058
NM_000540.3:c.14173G>C