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: PA093013

Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 13220

ClinVar RCV Id: RCV000014120 RCV000309118 RCV001804729 RCV002274899

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000046.1:p.Ala567Thr	CA122967 NM_000055.4:c.1699G>A