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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Val3128_Lys3129delinsArgGln;Val3131_Asn3137del;Val3139_Val3141del;Thr3143_Phe3147del;Ile3150_His3157delinsAla]
CA2695206426
XM_017010946.2:c.9381dup