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: PA916059005

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371292

ClinVar RCV Id: RCV000408967 RCV000598488 RCV003463802

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Pro755Leu	CA16041067 NM_170724.3:c.2264C>T