Canonical Allele Identifier: PA645456051
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283540
ClinVar RCV Id: RCV000329302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala511Asp
CA10604523
NM_000540.3:c.1532C>A