Canonical Allele Identifier: PA2499235656
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054127
ClinVar RCV Id: RCV002548541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Lys2136Asn
CA345411480
NM_001035.3:c.6408A>C
CA345411481
NM_001035.3:c.6408A>T