Canonical Allele Identifier: PA645507925
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241848
ClinVar RCV Id: RCV000228094

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala3157Asn
CA10582453
NM_138694.3:c.9469_9470delinsAA