Canonical Allele Identifier: PA645507783
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371292
ClinVar RCV Id: RCV000408967 RCV000598488 RCV003463802
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Pro755Leu
CA16041067
NM_138694.3:c.2264C>T