Canonical Allele Identifier: PA274390
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_619639.3:p.Trp937Ter
NM_138694.3:c.[2808del;2810G>T;2812T>A]

NM_138694.3:c.2810G>A

NM_138694.3:c.2811G>A