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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000341097.4:p.[Ser3187_Val3193delinsLeuLeuHisLysIleProSer;Val3196_Val3199delinsCysArgLeuCys;Arg3201_Gln3216delinsGlyIleGlnSerLeuTrpProProAlaLeuLeuLeuThrAlaPheArg]
CA276016
ENST00000340994.4:c.9559del
CA891862705
ENST00000340994.4:c.9560del