Canonical Allele Identifier: PA105379
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12971
ClinVar RCV Id: RCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2458Cys
CA024784
NM_000540.3:c.7372C>T