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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_000001.11:g.97691776G= , CM000663.2:g.97691776G=
GRCh38
NC_000001.10:g.98157332G= , CM000663.1:g.98157332G=
GRCh37
NC_000001.9:g.97929920G=
NCBI36
NG_008807.2:g.234284C= , LRG_722:g.234284C=
Transcript Alleles
HGVS
Amino-acid Change
NM_000110.4:c.703C=
MANE Select
NP_000101.2:p.Arg235=
ENST00000370192.8:c.703C=
MANE Select
ENSP00000359211.3:p.Arg235=
NM_000110.3:c.703C= , LRG_722t1:c.703C=
NP_000101.2:p.Arg235=
ENST00000370192.7:c.703C=
ENSP00000359211.3:p.Arg235=
ENST00000474241.1:n.467C=
XM_005270562.3:c.703C=
XP_005270619.2:p.Arg235=
XM_006710397.2:c.703C=
XP_006710460.1:p.Arg235=
XM_006710397.3:c.703C=
XP_006710460.1:p.Arg235=
XM_017000507.1:c.592C=
XP_016855996.1:p.Arg198=
XM_017000508.2:c.208C=
XP_016855997.1:p.Arg70=
XM_017000509.2:c.208C=
XP_016855998.1:p.Arg70=
XM_017000510.1:c.208C=
XP_016855999.1:p.Arg70=