Canonical Allele Identifier: PA645507780
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_619639.3:p.Ser731Ter
NM_138694.3:c.2192C>A

NM_138694.3:c.2192C>G