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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512983.1:p.[Gly3135del;Leu3137_Ala3138del;Val3140_Val3142del;Ser3144_Pro3146delinsTrp;Asn3148_Ala3164del]
CA658821795
XM_011514681.1:c.9401_9402dup