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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Val3147_Lys3148delinsArgGln;Val3150_Asn3156del;Val3158_Val3160del;Thr3162_Phe3166del;Ile3169_His3176delinsAla]
CA2695206426
XM_011514682.3:c.9438dup