Canonical Allele Identifier: PA2825200874
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014115
ClinVar RCV Id: RCV001312807 RCV001546363 RCV004005065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2539Gly
CA405671294
NM_000540.3:c.7616C>G