ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825898962
Gene: PNPLA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451071
ClinVar RCV Id:
RCV000521104
RCV000782288
RCV000845147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139188.1:p.Cys130Arg
CA363813785
NM_001145716.2:c.388T>C