Canonical Allele Identifier: PA232007
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133145
ClinVar RCV Id: RCV000119634 RCV001580421
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met1729Arg
CA024497
NM_000540.3:c.5186T>G