Canonical Allele Identifier: PA2830269509
Gene: LIPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1983705
ClinVar RCV Id: RCV002800080

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_660198.1:p.Lys218Asn
CA1797358
NM_145197.3:c.654G>C
CA347854457
NM_145197.3:c.654G>T