Canonical Allele Identifier: PA2825198080
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156194
ClinVar RCV Id: RCV003075335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met1647Thr
CA308092791
NM_000540.3:c.4940T>C