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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866436.1:p.[Gln3599_Thr3611delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val3613_Leu3614delinsThrArg;Asn3616_Ile3622delinsCysSerGluTyrAspTyrArg;Ala3624_Thr3628delinsLeuThrSerTyrSer]
CA2580075413
XM_017010947.2:c.10796delinsTT