Allele Registry

Canonical Allele Identifier: PA2828530273

Gene: PNPLA1 HGNC NCBI

ClinVar RCV:

RCV000504558

RCV000845143

RCV003324746

ClinVar Variation:

375256

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361552.1:p.Ser140Pro	CA3777677 NM_001374623.1:c.418T>C CA2695206234 NM_001374623.1:c.417_418delinsTC