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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.[Lys3195_Asn3202del;Val3204_Val3206del;Thr3208_Phe3212del;Ile3215_Ser3223del;Asn3225del]
CA2695198857
NM_170724.3:c.9584_9585del