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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Gln3644_Thr3656delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val3658_Leu3659delinsThrArg;Asn3661_Ile3667delinsCysSerGluTyrAspTyrArg;Ala3669_Thr3673delinsLeuThrSerTyrSer]
CA2580075413
XM_011514681.1:c.10931delinsTT