ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830269553
Gene: LIPT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003090341
RCV004073156
ClinVar Variation:
2166138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660198.1:p.Arg324Cys
CA1797415
NM_145197.3:c.970C>T