ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199519
Gene: LIPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170325
ClinVar Variation:
189834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191759.1:p.Thr179Ala
CA199518
NM_001204830.2:c.535A>G