Canonical Allele Identifier: PA2830257971
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp2736Arg
CA364423836
NM_138694.3:c.8206T>C
CA364423839
NM_138694.3:c.8206T>A