Canonical Allele Identifier: PA645507864
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000404946
ClinVar Variation:
357434
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala2159Thr
CA3852254
NM_138694.3:c.6475G>A