Canonical Allele Identifier: PA2580122873
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1761816
ClinVar RCV Id: RCV002412459

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Phe4189Leu
CA345413637
NM_001035.3:c.12565T>C
CA345413642
NM_001035.3:c.12567T>A
CA345413643
NM_001035.3:c.12567T>G