Canonical Allele Identifier: PA916059866
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522472
ClinVar RCV Id: RCV000625613

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asp2762Val
CA364423006
NM_170724.3:c.8285A>T