Canonical Allele Identifier: PA2580500766
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2038520
ClinVar RCV Id: RCV002895016 RCV003229924
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Phe3403Leu
CA3851130
NM_138694.3:c.10207T>C
CA364437344
NM_138694.3:c.10209C>G
CA364437345
NM_138694.3:c.10209C>A