ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239712
Gene: LIPT2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001520561
RCV001730809
RCV003980594
ClinVar Variation:
1169390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138341.1:p.Thr190Ser
CA6184906
NM_001144869.3:c.568A>T