Canonical Allele Identifier: PA2825195611
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2019839
ClinVar RCV Id: RCV002852119 RCV003134512 RCV003167835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala506Thr
CA062061
NM_000540.3:c.1516G>A