Canonical Allele Identifier: PA2830258607
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424884
ClinVar RCV Id: RCV001924111

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Phe3150Leu
CA364421040
NM_138694.3:c.9450C>G
CA364421041
NM_138694.3:c.9450C>A
CA364421047
NM_138694.3:c.9448T>C