Canonical Allele Identifier: PA2830256291
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636682
ClinVar RCV Id: RCV000788587 RCV002493438
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly1619Cys
CA364430998
NM_138694.3:c.4855G>T