Canonical Allele Identifier: PA2742004647
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689759
ClinVar RCV Id: RCV003493126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Met3644Ile
CA3850988
NM_138694.3:c.10932G>T
CA364431138
NM_138694.3:c.10932G>C
CA364431140
NM_138694.3:c.10932G>A