Allele Registry

Canonical Allele Identifier: PA1139673397

Gene: RYR1 HGNC NCBI

ClinVar Allele:

958634

ClinVar RCV:

RCV001239893

ClinVar Variation:

965443

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val4849Phe	CA405687657 NM_000540.3:c.14545G>T