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: PA2830256296

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167556

ClinVar RCV Id: RCV003086500

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Val1627Ala	CA364430857 NM_138694.3:c.4880T>C