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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Gly3113del;Leu3115_Ala3116del;Val3118_Val3120del;Ser3122_Pro3124delinsTrp;Asn3126_Ala3142del]
CA658821795
XM_017010946.2:c.9335_9336dup