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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512993.1:p.[Gln1712_Thr1724delinsLeuGluPheGlySerSerSerHisHisCysSerThrAspTrp;Val1726_Leu1727delinsThrArg;Asn1729_Ile1735delinsCysSerGluTyrAspTyrArg;Ala1737_Thr1741delinsLeuThrSerTyrSer]
CA2580075413
XM_011514691.3:c.5135delinsTT