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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866438.1:p.[Gly2558del;Leu2560_Ala2561del;Val2563_Val2565del;Ser2567_Pro2569delinsTrp;Asn2571_Ala2587del]
CA658821795
XM_017010949.2:c.7670_7671dup