Canonical Allele Identifier: PA2825201023
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074113
ClinVar RCV Id: RCV004012655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2579Leu
CA405671850
NM_000540.3:c.7735G>C
CA405671854
NM_000540.3:c.7735G>T