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: PA2826740163

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 835346

ClinVar RCV Id: RCV001036206 RCV002354977

ClinVar Variation Id: 2186279

ClinVar RCV Id: RCV002606517

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Met1208Ile	CA393851276 NM_001287247.2:c.3624G>A CA393851278 NM_001287247.2:c.3624G>T CA393851282 NM_001287247.2:c.3624G>C