Canonical Allele Identifier: PA203172
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188742
ClinVar RCV Id: RCV000169052 RCV000179159 RCV001292233 RCV001527869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Met2841Val
CA203171
NM_138694.3:c.8521A>G