Canonical Allele Identifier: PA2499299875
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064405
ClinVar RCV Id: RCV001374367
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Lys3134Glu
CA364421153
NM_170724.3:c.9400A>G