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_011512993.1:p.[Leu1204_Tyr1209delinsSerPheGlySerSer;Phe1211_Asn1216delinsCysIlePheCys;Val1218Thr;Lys1220_Val1221delinsPheArg;Ile1223_Asn1227delinsLys;Val1229_Val1231delinsAlaAspCys]
CA913110677
XM_011514691.3:c.3608dup