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: PA1139691701

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 835346

ClinVar RCV Id: RCV001036206 RCV002354977

ClinVar Variation Id: 2186279

ClinVar RCV Id: RCV002606517

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Met964Ile	CA393851276 NM_001287248.2:c.2892G>A CA393851278 NM_001287248.2:c.2892G>T CA393851282 NM_001287248.2:c.2892G>C