Allele Registry

Canonical Allele Identifier: PA199525

Gene: LIPT1 HGNC NCBI

ClinVar RCV:

RCV000170326

RCV001551057

ClinVar Variation:

189835

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191759.1:p.Ser71Phe	CA199524 NM_001204830.2:c.212C>T