ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829838984
Gene: LIPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002804500
ClinVar Variation:
2270083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057013.1:p.Ser71Cys
CA1797286
NM_015929.4:c.212C>G