This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866440.1:p.Met2090Leu
CA364439498
XM_017010951.1:c.6268A>T
CA364439502
XM_017010951.1:c.6268A>C