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_011512982.1:p.Asn3169Lys
CA364420908
XM_011514680.3:c.9507C>G
CA364420909
XM_011514680.3:c.9507C>A