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: PA891858300

Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572902

ClinVar RCV Id: RCV000694411 RCV002493192

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg3240Gln	CA138895870 NM_138694.3:c.9719G>A