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.
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Canonical Allele Identifier: PA2580197103

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1719134

ClinVar RCV Id: RCV002301894

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Phe670Leu	CA393846905 NM_001287248.2:c.2008T>C CA393846910 NM_001287248.2:c.2010T>A CA393846911 NM_001287248.2:c.2010T>G