ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830269635
Gene: LIPT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002036947
RCV004044901
ClinVar Variation:
1525785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660199.1:p.Leu215Ile
CA1797356
NM_145198.3:c.643C>A