Canonical Allele Identifier: PA645507913
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369960
ClinVar RCV Id: RCV000408884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly2984Ala
CA10654916
NM_138694.3:c.8951G>C