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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866437.1:p.[Gly2941del;Leu2943_Ala2944del;Val2946_Val2948del;Ser2950_Pro2952delinsTrp;Asn2954_Ala2970del]
CA658821795
XM_017010948.2:c.8819_8820dup