Canonical Allele Identifier: PA658675887
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452256
ClinVar RCV Id: RCV000521195 RCV001829523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Lys3195Asn
CA364420751
NM_138694.3:c.9585A>T
CA364420752
NM_138694.3:c.9585A>C