ClinGen Allele Registry
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Canonical Allele Identifier:
CA021836
Gene:
Linked Data
ClinVar Variation Id:
90488
ClinVar RCV Id:
RCV000165718
RCV000409105
RCV001567568
RCV002055083
dbSNP Id:
rs138068023
gnomAD v2:
2-47630106-G-C
gnomAD v3:
2-47402967-G-C
gnomAD v4:
2-47402967-G-C
MyVariant Identifiers:
chr2:g.47630106G>C (hg19)
chr2:g.47402967G>C (hg38)
PubMed:
PMID:9671718
PMID:11782355
PMID:15365995
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.47402967G>C , CM000664.2:g.47402967G>C
GRCh38
NC_000002.11:g.47630106G>C , CM000664.1:g.47630106G>C
GRCh37
NC_000002.10:g.47483610G>C
NCBI36
NG_007110.2:g.4844G>C , LRG_218:g.4844G>C
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