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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512992.1:p.[Gly1203del;Leu1205_Ala1206del;Val1208_Val1210del;Ser1212_Pro1214delinsTrp;Asn1216_Ala1232del]
CA658821795
XM_011514690.3:c.3605_3606dup