ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826276351
Gene: LIPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392413
ClinVar RCV Id:
RCV000422364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191759.1:p.Gly170Ser
CA16604402
NM_001204830.2:c.508G>A