ClinGen Allele Registry
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Canonical Allele Identifier:
CA286948574
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.3126260T>A
GRCh37
chr17:g.3029554T>A
Linked Data - Sequence & Population
gnomAD v3:
17:3126260 T / A
gnomAD v4:
chr17-3126260-T-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
12449465
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.3126260T>A , CM000679.2:g.3126260T>A
GRCh38
NC_000017.10:g.3029554T>A , CM000679.1:g.3029554T>A
GRCh37
NC_000017.9:g.2976304T>A
NCBI36
Search 100 bp 5'
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