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.Phe283Leu	CA3853741 XM_017010947.2:c.847T>C CA364430965 XM_017010947.2:c.849T>G CA364430968 XM_017010947.2:c.849T>A