Canonical Allele Identifier: PA645507838
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371295
ClinVar RCV Id: RCV000410465 RCV003463803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Pro1628Ala
CA3852648
NM_138694.3:c.4882C>G