Canonical Allele Identifier: PA2825200947
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3065844
ClinVar RCV Id: RCV003990921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro2560Leu
CA405671586
NM_000540.3:c.7679C>T