ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741840380
Gene: PNPLA6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159583.1:p.Ser1148Cys
CA403134505
NM_001166111.2:c.3442A>T