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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.[Gln3687_Thr3699delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val3701_Leu3702delinsThrArg;Asn3704_Ile3710delinsCysSerGluTyrAspTyrArg;Ala3712_Thr3716delinsLeuThrSerTyrSer]
CA2580075413
NM_138694.3:c.11060delinsTT