Allele Registry

Canonical Allele Identifier: PA2826276393

Gene: LIPT1 HGNC NCBI

ClinVar RCV:

RCV003090341

RCV004073156

ClinVar Variation:

2166138

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191759.1:p.Arg324Cys	CA1797415 NM_001204830.2:c.970C>T