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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000341097.4:p.[Leu3179_Tyr3184delinsSerPheGlySerSer;Phe3186_Asn3191delinsCysIlePheCys;Val3193Thr;Lys3195_Val3196delinsPheArg;Ile3198_Asn3202delinsLys;Val3204_Val3206delinsAlaAspCys]
CA913110677
ENST00000340994.4:c.9533dup