Canonical Allele Identifier: PA234560
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167473
ClinVar RCV Id: RCV000153701 RCV000723889 RCV001164890 RCV001810428 RCV003945211
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Met3642Ile
CA234559
NM_138694.3:c.10926G>A
CA364431207
NM_138694.3:c.10926G>T
CA364431216
NM_138694.3:c.10926G>C