ClinGen Allele Registry
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Canonical Allele Identifier:
CA11022531
Gene:
Linked Data - Expert Curation
COSMIC:
COSN6671445 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.102454108T>C
GRCh37
chr2:g.103070568T>C
Linked Data - Sequence & Population
gnomAD v2:
2:103070568 T / C
gnomAD v3:
2:102454108 T / C
gnomAD v4:
chr2-102454108-T-C
Joint Max Group AF
0.89464346 (AFR)
Genomes Max Group AF
0.89464346 (AFR)
Linked Data - NCBI & NCI
dbSNP:
917997
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102454108T>C , CM000664.2:g.102454108T>C
GRCh38
NC_000002.11:g.103070568T>C , CM000664.1:g.103070568T>C
GRCh37
NC_000002.10:g.102437000T>C
NCBI36
NG_011481.1:g.40315T>C
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