Canonical Allele Identifier: PA2499236810
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1179445
ClinVar RCV Id: RCV001536429 RCV002495864 RCV004008920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2575Cys
CA082560
NM_001042723.2:c.7723C>T