Canonical Allele Identifier: PA2830257037
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly1979Arg
CA364417955
NM_138694.3:c.5935G>C
CA364417956
NM_138694.3:c.5935G>A