ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830269575
Gene: LIPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482113
ClinVar RCV Id:
RCV002000726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660199.1:p.Val41Ile
CA347851233
NM_145198.3:c.121G>A