Canonical Allele Identifier: PA2499299807
Gene: PKHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asp1337Glu
CA3852797
NM_170724.3:c.4011T>G
CA138947354
NM_170724.3:c.4011T>A