Canonical Allele Identifier: PA2825200899
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071850
ClinVar RCV Id: RCV004016344 RCV004371960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2549Val
CA069910
NM_000540.3:c.7646C>T