Canonical Allele Identifier: PA231989
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65923
ClinVar RCV Id: RCV000056170 RCV000119622 RCV001854159 RCV002477185 RCV003996483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala1577Thr
CA024459
NM_000540.3:c.4729G>A