Canonical Allele Identifier: PA658675917
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458586
ClinVar RCV Id: RCV000557856

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Leu3543Ser
CA364433489
NM_138694.3:c.10628T>C