Canonical Allele Identifier: PA2830255474
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp848Arg
CA364443125
NM_138694.3:c.2542T>C
CA364443126
NM_138694.3:c.2542T>A