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Canonical Allele Identifier: Get Identifier
Gene: PNPLA6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000443323.1:p.[Tyr1172_Phe1179delinsLeuProValArgGluGly;Gly1181Val;Ser1183del;Gly1185_Ile1188delinsLeu;Lys1190_Asp1194delinsProTrpGln;Arg1196_Asn1201delinsHis]
CA2587958183
ENST00000545201.6:c.3514dup