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: PA913193083

Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 635699

ClinVar RCV Id: RCV000787212

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000449.1:p.Asn146Asp	CA398751462 NM_000458.4:c.436A>G