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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.[Thr36_Thr39delinsAsn;Ile41_Phe42del;Gly44_Gly55delinsHis;Gln57_Ile60del;Leu62Phe;Val65_Asn66del]
CA2679088025
XM_011514682.3:c.104dup