Canonical Allele Identifier: PA105139
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133182
ClinVar RCV Id: RCV000119681 RCV000148806 RCV001787991 RCV001383434 RCV001787990 RCV001787992 RCV001787986 RCV001787987 RCV001787988 RCV001787989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2350Thr
CA024690
NM_000540.3:c.7048G>A