Canonical Allele Identifier: PA2825195241
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073224
ClinVar RCV Id: RCV004015238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.His254Gln
CA405680310
NM_000540.3:c.762T>A
CA405680313
NM_000540.3:c.762T>G