ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117142
Gene: LPIN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_663731.1:p.Arg388Ter
NM_145693.4:c.1162C>T