Canonical Allele Identifier: PA2830258598
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064405
ClinVar RCV Id: RCV001374367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Lys3134Glu
CA364421153
NM_138694.3:c.9400A>G