Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2826739775

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1477477

ClinVar RCV Id: RCV001971611

ClinVar Variation Id: 1492470

ClinVar RCV Id: RCV001980980

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Met1026Ile	CA393846780 NM_001287247.2:c.3078G>A CA393846781 NM_001287247.2:c.3078G>C CA393846782 NM_001287247.2:c.3078G>T