Allele Registry

Canonical Allele Identifier: PA2499236752

Gene: RYR1 HGNC NCBI

ClinVar Allele:

1200304

ClinVar RCV:

RCV001580390

ClinVar Variation:

1210299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ala612Pro	CA308125185 NM_001042723.2:c.1834G>C