Allele Registry

Canonical Allele Identifier: PA3057545972

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119534

ClinVar Variation:

133080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.[Phe4858del;Asn4860_Asp4864del]	CA024191 NM_001042723.2:c.14573_14590del