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: PA111402

Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2367

ClinVar RCV Id: RCV000002464 RCV001065184

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_998818.1:p.Ile222Asn	CA252252 NM_213653.4:c.665T>A