Allele Registry

Canonical Allele Identifier: PA231825

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056171

RCV000119471

ClinVar Variation:

65924

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4329Asp	CA024025 NM_000540.3:c.12986C>A