Canonical Allele Identifier: PA2825195697
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435528
ClinVar RCV Id: RCV003142709
ClinVar Variation Id: 2911977
ClinVar RCV Id: RCV003757063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser557Thr
CA405690539
NM_000540.3:c.1669T>A
CA2739276739
NM_000540.3:c.1668_1669delinsAA