Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2826591627

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 1923024

ClinVar RCV Id: RCV002617941

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268654.1:p.Met141Ile	CA351606182 NM_001281725.2:c.423G>A CA351606183 NM_001281725.2:c.423G>C CA351606184 NM_001281725.2:c.423G>T