Canonical Allele Identifier: PA211779
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161369
ClinVar RCV Id: RCV000148816 RCV000153861 RCV000210004 RCV000723802 RCV000533102 RCV002514856 RCV002492546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn759Asp
CA024341
NM_000540.3:c.2275A>G