Canonical Allele Identifier: PA645495567
Gene: PNPLA6 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006693.3:p.Arg1314His
CA9140697
NM_006702.5:c.3941G>A
CA916083678
NM_006702.5:c.3941_3942delinsAT