ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830269652
Gene: LIPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660199.1:p.Glu270Lys
CA1797380
NM_145198.3:c.808G>A