ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825899070
Gene: PNPLA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139189.2:p.Asp172Asn
CA3777758
NM_001145717.1:c.514G>A