ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199527
Gene: LIPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170326
RCV001551057
ClinVar Variation:
189835
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660198.1:p.Ser71Phe
CA199524
NM_145197.3:c.212C>T