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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.[Arg1643del;Arg1645_Cys1647delinsAlaGlnLeu;Thr1649_Thr1651delinsTyr;Thr1653_Pro1664delinsAsp;Met1666_Ser1671del;Arg1673del]
CA913110686
XM_011514690.3:c.4928_4929del