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: PA111363

Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2369

ClinVar RCV Id: RCV000002466 RCV001851583

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_998818.1:p.Cys80Arg	CA252255 NM_213653.4:c.238T>C