Canonical Allele Identifier: PA2580129413
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1695404
ClinVar RCV Id: RCV002281653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln3905His
CA405661171
NM_000540.3:c.11715G>C
CA405661173
NM_000540.3:c.11715G>T