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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360158.3:p.[Leu3399_Phe3403delinsAspAlaArg;Cys3405_Lys3406delinsHisLeu;Gln3410_Tyr3428del]
CA913110699
ENST00000371117.8:c.10195_10196del