Canonical Allele Identifier: PA3072583044
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp2398Cys
CA364423234
NM_138694.3:c.7194G>T
CA364423243
NM_138694.3:c.7194G>C