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: PA093188

Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 554917

ClinVar RCV Id: RCV000670633 RCV003226360

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000046.1:p.Leu153Phe	CA2692501 NM_000055.4:c.459A>T CA355112761 NM_000055.4:c.459A>C