Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA916016308

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 236809

ClinVar RCV Id: RCV000234425 RCV002433943 RCV003477780

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gly984Arg	CA7738900 NM_001287247.2:c.2950G>A CA393846480 NM_001287247.2:c.2950G>C