Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2830256297

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2193654

ClinVar RCV Id: RCV002612292 RCV002612293

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Thr1629Ala	CA3852647 NM_138694.3:c.4885A>G