Canonical Allele Identifier: PA212145
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224377
ClinVar RCV Id: RCV000210634 RCV000298912 RCV000357405 RCV000538947 RCV003137802 RCV003488465 RCV000210019 RCV000302588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala941Val
CA064079
NM_000540.3:c.2822C>T