ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826022192
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448096
ClinVar RCV Id:
RCV000518428
RCV000861262
RCV004537858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159584.1:p.Pro1293Leu
CA9140701
NM_001166112.2:c.3878C>T