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: PA916058914

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189098

ClinVar RCV Id: RCV000169507 RCV001844813 RCV003398869

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Met627Lys	CA274375 NM_170724.3:c.1880T>A