Canonical Allele Identifier: PA098625
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp656Cys
CA364444600
NM_138694.3:c.1968G>T
CA364444602
NM_138694.3:c.1968G>C