Allele Registry

Canonical Allele Identifier: PA2825423066

Gene: RYR1 HGNC NCBI

ClinVar Allele:

581687

ClinVar RCV:

RCV000721397

ClinVar Variation:

590470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Ile4893Asn	CA405690302 NM_001042723.2:c.14678T>A