ClinGen Allele Registry
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Canonical Allele Identifier:
CA14130989
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr15:g.43267033T>C
GRCh37
chr15:g.43559231T>C
Linked Data - Sequence & Population
gnomAD v2:
15:43559231 T / C
gnomAD v3:
15:43267033 T / C
gnomAD v4:
chr15-43267033-T-C
Joint Max Group AF
0.2575238 (SAS)
Genomes Max Group AF
0.2575238 (SAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001690202
ClinVar Variation:
1276897
dbSNP:
748404
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.43267033T>C , CM000677.2:g.43267033T>C
GRCh38
NC_000015.9:g.43559231T>C , CM000677.1:g.43559231T>C
GRCh37
NC_000015.8:g.41346523T>C
NCBI36
NG_016124.1:g.4825A>G
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