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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512985.1:p.[Ala3476_Val3479delinsLeu;Thr3481_Val3487delinsGluSerSerLeu;Glu3489del;Val3491Arg;Asn3493_Ile3496del;Ala3498_Lys3505delinsTyr]
CA2578644499
XM_011514683.3:c.10426del