Canonical Allele Identifier: PA246353
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197946
ClinVar RCV Id: RCV000179118 RCV000210026 RCV000264650 RCV000324517 RCV000379118 RCV001088536 RCV000721704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser2776Phe
CA024910
NM_000540.3:c.8327C>T