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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.[Val1221_Asn1227del;Val1229_Val1231del;Thr1233_Phe1237del;Ile1240_Ser1248del;Asn1250del]
CA1628502340
XM_011514690.3:c.3660dup