Canonical Allele Identifier: PA132964
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43770
ClinVar RCV Id: RCV000036730 RCV000242051 RCV000442890 RCV000768758 RCV001100666 RCV001098855 RCV003996272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Ala1136Val
CA009220
NM_001035.3:c.3407C>T