Canonical Allele Identifier: PA2580500801
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2232242
ClinVar RCV Id: RCV002742065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala3690Ser
CA364430219
NM_138694.3:c.11068G>T