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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Gln3641_Thr3653delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val3655_Leu3656delinsThrArg;Asn3658_Ile3664delinsCysSerGluTyrAspTyrArg;Ala3666_Thr3670delinsLeuThrSerTyrSer]
CA2580075413
XM_011514682.3:c.10922delinsTT