Allele Registry

Canonical Allele Identifier: PA2825200411

Gene: RYR1 HGNC NCBI

ClinVar Allele:

1356375

ClinVar RCV:

RCV001943281

RCV002484475

ClinVar Variation:

1412777

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala2287Asp	CA068817 NM_000540.3:c.6860C>A