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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.64338283A>C , CM000676.2:g.64338283A>C
GRCh38
NC_000014.8:g.64805001A>C , CM000676.1:g.64805001A>C
GRCh37
NC_000014.7:g.63874754A>C
NCBI36
NG_011535.1:g.5268T>G
Transcript Alleles
HGVS
Amino-acid Change
NM_001291712.1:c.-1461T>G
NP_001278641.1:n.-1461T>G
NM_001291712.2:c.-1461T>G
NP_001278641.1:n.-1461T>G
NM_001291723.1:c.-476T>G
NP_001278652.1:n.-476T>G
NR_073496.1:n.268T>G
NR_073496.2:n.331T>G
XM_017021079.1:c.-784T>G
XP_016876568.1:n.-784T>G
XM_017021080.1:c.-1593T>G
XP_016876569.1:n.-1593T>G
XM_017021081.1:c.-689T>G
XP_016876570.1:n.-689T>G
XM_017021084.1:c.-784T>G
XP_016876573.1:n.-784T>G