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: PA2580510022

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415806

ClinVar RCV Id: RCV003105018

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Gly1630Arg	CA3852645 NM_170724.3:c.4888G>A CA364430806 NM_170724.3:c.4888G>C