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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866437.1:p.[Gln3450_Thr3462delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val3464_Leu3465delinsThrArg;Asn3467_Ile3473delinsCysSerGluTyrAspTyrArg;Ala3475_Thr3479delinsLeuThrSerTyrSer]
CA2580075413
XM_017010948.2:c.10349delinsTT