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: PA093207

Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13226

ClinVar RCV Id: RCV000014130 RCV000665725

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000046.1:p.Leu358Ile	CA122969 NM_000055.4:c.1072T>A