ClinGen Allele Registry
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Canonical Allele Identifier:
CA2671575189
Gene: NFKB1
HGNC
NCBI
Linked Data
gnomAD v4:
4-102501329-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501329G>T , CM000666.2:g.102501329G>T
GRCh38
NC_000004.11:g.103422486G>T , CM000666.1:g.103422486G>T
GRCh37
NC_000004.10:g.103641518G>T
NCBI36
NG_050628.1:g.5001G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000226574.8:c.-467G>T
ENSP00000226574.4:n.-467G>T
NM_001165412.1:c.-467G>T
NP_001158884.1:n.-467G>T
NM_003998.3:c.-467G>T
NP_003989.2:n.-467G>T
XM_011532467.1:c.563C>A
XP_011530769.1:p.Thr188Asn
NR_136202.1:n.48+1110C>A
XM_024454067.1:c.-513G>T
XP_024309835.1:n.-513G>T
XM_024454069.1:c.-513G>T
XP_024309837.1:n.-513G>T
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