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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512992.1:p.[Ala1715_Val1718delinsLeu;Thr1720_Val1726delinsGluSerSerLeu;Glu1728del;Val1730Arg;Asn1732_Ile1735del;Ala1737_Lys1744delinsTyr]
CA2578644499
XM_011514690.3:c.5143del