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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.[Leu1424_Phe1428delinsAspAlaArg;Cys1430_Lys1431delinsHisLeu;Gln1435_Tyr1453del]
CA913110699
XM_011514691.3:c.4270_4271del