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ClinGen Allele Registry
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Canonical Allele Identifier:
CA247854744
Community Standard Title: NC_000013.11:g.30467458C>G
Gene: HMGB1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.30467458C>G , CM000675.2:g.30467458C>G
GRCh38
NC_000013.10:g.31041595C>G , CM000675.1:g.31041595C>G
GRCh37
NC_000013.9:g.29939595C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001313893.1:c.-14-3764G>C
NP_001300822.1:n.-14-3764G>C
NM_001370340.1:c.-14-3764G>C
NP_001357269.1:n.-14-3764G>C
ENST00000405805.5:c.-14-3764G>C
ENSP00000384678.1:n.-14-3764G>C
XM_024449340.1:c.-14-3764G>C
XP_024305108.1:n.-14-3764G>C
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