Canonical Allele Identifier: PA2830269659
Gene: LIPT1 HGNC NCBI
ClinVar RCV:
RCV001904442
ClinVar Variation:
1359554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_660199.1:p.Glu295Asp
CA52676587
NM_145198.3:c.885A>C
CA347855387
NM_145198.3:c.885A>T