Canonical Allele Identifier: PA2830269660
Gene: LIPT1 HGNC NCBI
ClinVar RCV:
RCV002819516
ClinVar Variation:
1999330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_660199.1:p.Val298Leu
CA52676612
NM_145198.3:c.892G>C
CA347855417
NM_145198.3:c.892G>T