ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826023268
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240691
ClinVar RCV Id:
RCV000515015
RCV000280617
RCV001084647
RCV001847963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159586.1:p.Pro486Leu
CA9139820
NM_001166114.2:c.1457C>T