Allele Registry

Canonical Allele Identifier: PA2825200048

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV004011787

ClinVar Variation:

3070269

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Met2178Leu	CA405664434 NM_000540.3:c.6532A>C CA405664436 NM_000540.3:c.6532A>T