ClinGen Allele Registry
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Canonical Allele Identifier:
CA194973347
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr9:g.80192588G>A
GRCh37
chr9:g.82807503G>A
Linked Data - Sequence & Population
gnomAD v2:
9:82807503 G / A
gnomAD v3:
9:80192588 G / A
gnomAD v4:
chr9-80192588-G-A
Joint Max Group AF
0.40249105 (MID)
Genomes Max Group AF
0.35282403 (NFE)
Linked Data - NCBI & NCI
dbSNP:
12554086
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.80192588G>A , CM000671.2:g.80192588G>A
GRCh38
NC_000009.11:g.82807503G>A , CM000671.1:g.82807503G>A
GRCh37
NC_000009.10:g.81997323G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'