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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512981.1:p.[Gly3178del;Leu3180_Ala3181del;Val3183_Val3185del;Ser3187_Pro3189delinsTrp;Asn3191_Ala3207del]
CA658821795
XM_011514679.1:c.9530_9531dup