ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829839004
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_057013.1:p.Arg151Lys
CA1797318
NM_015929.4:c.452G>A