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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.[Gly34Arg;Thr36_Thr39delinsAsn;Ile41_Phe42del;Gly44_Gly55delinsHis;Gln57_Ile60del;Leu62_Val63delinsPhe]
CA2679088026
ENST00000340994.4:c.99dup