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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512993.1:p.[Leu1142_Gly1162delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp1164_Ile1169delinsThrThrValProGlu;Gly1171Leu]
CA1139659317
XM_011514691.3:c.3423del