ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825869287
Gene: LIPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1940508
ClinVar RCV Id:
RCV002639369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138341.1:p.Asp149His
CA381976383
NM_001144869.3:c.445G>C