ClinGen Allele Registry
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Canonical Allele Identifier:
CA133827324
Gene: HIVEP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.12196980C>A
GRCh37
chr6:g.12197213C>A
Linked Data - Sequence & Population
gnomAD v2:
6:12197213 C / A
gnomAD v3:
6:12196980 C / A
gnomAD v4:
chr6-12196980-C-A
Joint Max Group AF
0.20584186 (NFE)
Genomes Max Group AF
0.20584186 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1040994
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.12196980C>A , CM000668.2:g.12196980C>A
GRCh38
NC_000006.11:g.12197213C>A , CM000668.1:g.12197213C>A
GRCh37
NC_000006.10:g.12305199C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743372.1:n.7806-2241C>A
Search 100 bp 5'
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