ClinGen Allele Registry
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Canonical Allele Identifier:
CA604287222
Gene:
Linked Data
dbSNP Id:
rs1279891072
gnomAD v2:
12-28198125-T-C
gnomAD v3:
12-28045192-T-C
gnomAD v4:
12-28045192-T-C
MyVariant Identifiers:
chr12:g.28198125T>C (hg19)
chr12:g.28045192T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045192T>C , CM000674.2:g.28045192T>C
GRCh38
NC_000012.11:g.28198125T>C , CM000674.1:g.28198125T>C
GRCh37
NC_000012.10:g.28089392T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6234A>G
Search 100 bp 5'
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