ClinGen Allele Registry
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Canonical Allele Identifier:
CA16044115
Gene:
Linked Data
ClinVar Variation Id:
14725
ClinVar RCV Id:
RCV000015846
dbSNP Id:
rs2069707
gnomAD v2:
12-68554288-G-C
gnomAD v3:
12-68160508-G-C
gnomAD v4:
12-68160508-G-C
MyVariant Identifiers:
chr12:g.68554288G>C (hg19)
chr12:g.68160508G>C (hg38)
PubMed:
PMID:17215375
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68160508G>C , CM000674.2:g.68160508G>C
GRCh38
NC_000012.11:g.68554288G>C , CM000674.1:g.68554288G>C
GRCh37
NC_000012.10:g.66840555G>C
NCBI36
NG_015840.1:g.4234C>G
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