ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476343
Gene: PNPLA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
261250
ClinVar RCV Id:
RCV000253618
RCV001442562
RCV003422179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065109.1:p.Pro315Ser
CA5791255
NM_020376.4:c.943C>T