Canonical Allele Identifier: PA2825201815
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 665617
ClinVar RCV Id: RCV000823941 RCV004002859 RCV002507445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe2997Leu
CA405683468
NM_000540.3:c.8989T>C
CA405683473
NM_000540.3:c.8991C>A
CA405683474
NM_000540.3:c.8991C>G