Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA3068374131

Gene: BCHE HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000046.1:p.Thr271Arg	CA355112022 NM_000055.4:c.812C>G