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.Phe3315Leu	CA3851130 XM_017010947.2:c.9943T>C CA364437344 XM_017010947.2:c.9945C>G CA364437345 XM_017010947.2:c.9945C>A