ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826022617
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425159
ClinVar RCV Id:
RCV000487803
RCV000516319
RCV000613986
RCV001848857
RCV004535540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159585.1:p.Val749Met
CA9140064
NM_001166113.1:c.2245G>A