Canonical Allele Identifier: PA2580510375
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164978
ClinVar RCV Id: RCV003088309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ala3123Val
CA3851400
NM_170724.3:c.9368C>T