Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: PKHD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016866436.1:p.Val1980Leu	CA364439824 XM_017010947.2:c.5938G>T CA364439825 XM_017010947.2:c.5938G>C