Canonical Allele Identifier: PA231888
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133072
ClinVar RCV Id: RCV000119521 RCV001787952 RCV001787957 RCV002225084 RCV001787951 RCV001787953 RCV001787954 RCV001787955 RCV001787956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His4833Tyr
CA024158
NM_000540.3:c.14497C>T