Canonical Allele Identifier: PA2825423062
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582126
ClinVar RCV Id: RCV000706118 RCV000721396 RCV003352998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4892Asp
CA405690291
NM_001042723.2:c.14675G>A