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: PA916059395

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188369

ClinVar RCV Id: RCV000168407 RCV000479548 RCV000626996 RCV001331702 RCV001292108 RCV001507098 RCV003398859 RCV001844812

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg1624Trp	CA334736 NM_170724.3:c.4870C>T