Allele Registry

Canonical Allele Identifier: PA645388046

Gene: RYR2 HGNC NCBI

ClinVar Allele:

391039

ClinVar RCV:

RCV001553236

RCV002446768

RCV002522771

ClinVar Variation:

404190

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Ala77Val	CA16610004 NM_001035.3:c.230C>T