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: PA916060049

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377018

ClinVar RCV Id: RCV000444254 RCV000502876 RCV001336942 RCV003418109

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile3177Thr	CA3851379 NM_170724.3:c.9530T>C