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: PA2573305397

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390587

ClinVar RCV Id: RCV001891073

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Val1640Ile	CA364430626 NM_170724.3:c.4918G>A