ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130658
Gene: PNPLA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39866
ClinVar RCV Id:
RCV000033093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065109.1:p.Gln250Pro
CA130657
NM_020376.4:c.749A>C