Canonical Allele Identifier: PA2825198313
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2987419
ClinVar RCV Id: RCV003849058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser1716Thr
CA405653973
NM_000540.3:c.5147G>C