Canonical Allele Identifier: PA2830269636
Gene: LIPT1 HGNC NCBI
ClinVar RCV:
RCV002800080
ClinVar Variation:
1983705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_660199.1:p.Lys218Asn
CA1797358
NM_145198.3:c.654G>C
CA347854457
NM_145198.3:c.654G>T