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: PA234566

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167478

ClinVar RCV Id: RCV000153706 RCV000200664 RCV000780600 RCV003416003 RCV003474810

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg3240Leu	CA234565 NM_138694.3:c.9719G>T