Allele Registry

Canonical Allele Identifier: PA2825423167

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

136845

ClinVar RCV:

RCV000119571

RCV000148804

RCV000554319

RCV000605381

RCV001249254

RCV001729396

RCV002505053

ClinVar Variation:

133098

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Pro4968Leu	CA024276 NM_001042723.2:c.14903C>T