Canonical Allele Identifier: PA106373
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133223
ClinVar RCV Id: RCV000119746 RCV000147446 RCV000202878 RCV000335435 RCV000392959 RCV000209984 RCV001079361 RCV000403812 RCV001802881 RCV002498553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr2787Ser
CA024914
NM_000540.3:c.8360C>G
CA405677589
NM_000540.3:c.8359A>T