ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199526
Gene: LIPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057013.1:p.Ser71Phe
CA199524
NM_015929.4:c.212C>T