Canonical Allele Identifier: PA2573169856
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419955
ClinVar RCV Id: RCV001910745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu4410Asp
CA308109581
NM_000540.3:c.13230G>C
CA405674504
NM_000540.3:c.13230G>T