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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Gly3132del;Leu3134_Ala3135del;Val3137_Val3139del;Ser3141_Pro3143delinsTrp;Asn3145_Ala3161del]
CA658821795
XM_011514682.3:c.9392_9393dup