Canonical Allele Identifier: PA645507965
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 414168
ClinVar RCV Id: RCV000463053 RCV001357091 RCV003932735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala3742Thr
CA3850924
NM_138694.3:c.11224G>A