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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.[Leu3071_Gly3091delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3093_Ile3098delinsThrThrValProGlu;Gly3100Leu]
CA1139659317
XM_011514682.3:c.9210del