ClinGen Allele Registry
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Canonical Allele Identifier:
PA915989607
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409994
ClinVar RCV Id:
RCV000470003
RCV002293441
RCV001535779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159583.1:p.Pro1345Ser
CA9140664
NM_001166111.2:c.4033C>T