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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360158.3:p.[Ala3690_Val3693delinsLeu;Thr3695_Val3701delinsGluSerSerLeu;Glu3703del;Val3705Arg;Asn3707_Ile3710del;Ala3712_Lys3719delinsTyr]
CA2578644499
ENST00000371117.8:c.11068del