ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495522
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000487803
RCV000516319
RCV000613986
RCV001848857
RCV004535540
ClinVar Variation:
425159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006693.3:p.Val749Met
CA9140064
NM_006702.5:c.2245G>A