ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826023562
Gene: PNPLA6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087297
RCV001854508
ClinVar Variation:
101039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159586.1:p.Thr1048Ile
CA150705
NM_001166114.2:c.3143C>T