Canonical Allele Identifier: PA645507978
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290109
ClinVar RCV Id: RCV000381345 RCV002059281
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asn3940Tyr
CA3850684
NM_138694.3:c.11818A>T