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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.[Val3131_Asn3137del;Val3139_Val3141del;Thr3143_Phe3147del;Ile3150_Ser3158del;Asn3160del]
CA1628502340
XM_017010946.2:c.9390dup