Canonical Allele Identifier: PA658680825
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449573
ClinVar RCV Id: RCV000707225 RCV000721425 RCV002497012 RCV004003603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu579Lys
CA062370
NM_000540.3:c.1735G>A