Canonical Allele Identifier: PA2830254305
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2671719
ClinVar RCV Id: RCV003448804

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser31Arg
CA364440952
NM_138694.3:c.93C>G
CA364440953
NM_138694.3:c.93C>A
CA364440959
NM_138694.3:c.91A>C