ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829838984
Gene: LIPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057013.1:p.Ser71Cys
CA1797286
NM_015929.4:c.212C>G