Allele Registry

Canonical Allele Identifier: PA2825422588

Gene: RYR1 HGNC NCBI

ClinVar Allele:

415654

ClinVar RCV:

RCV000489580

ClinVar Variation:

427029

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe4547Ile	CA405678249 NM_001042723.2:c.13639T>A