Canonical Allele Identifier: PA2825198669
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070663
ClinVar RCV Id: RCV004013173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp1809Glu
CA067088
NM_000540.3:c.5427C>G
CA405655188
NM_000540.3:c.5427C>A