ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830269605
Gene: LIPT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000901357
RCV003958145
ClinVar Variation:
727071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660199.1:p.Arg151Lys
CA1797318
NM_145198.3:c.452G>A