Canonical Allele Identifier: PA234560
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167473

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Met3642Ile
CA234559
NM_138694.3:c.10926G>A
CA364431207
NM_138694.3:c.10926G>T
CA364431216
NM_138694.3:c.10926G>C