Canonical Allele Identifier: PA2573099780
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1255546
ClinVar RCV Id: RCV001844875
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Tyr2105Cys
CA364439216
NM_170724.3:c.6314A>G