Canonical Allele Identifier: PA2825198157
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435583
ClinVar RCV Id: RCV003130460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1668Phe
CA405652946
NM_000540.3:c.5002C>T