Canonical Allele Identifier: PA224111
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96440
ClinVar RCV Id: RCV000253968 RCV000860694 RCV001449653 RCV001705803 RCV003891580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala3072Val
CA224110
NM_138694.3:c.9215C>T