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: PA098059

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 553147

ClinVar RCV Id: RCV000668531

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Glu3502Val	CA364434586 NM_138694.3:c.10505A>T