ClinGen Allele Registry
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Canonical Allele Identifier:
CA14644161
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.44911194T>C
GRCh37
chr19:g.45414451T>C
Linked Data - Sequence & Population
gnomAD v2:
19:45414451 T / C
gnomAD v3:
19:44911194 T / C
gnomAD v4:
chr19-44911194-T-C
Joint Max Group AF
0.84527606 (AFR)
Genomes Max Group AF
0.84526225 (AFR)
Exomes Max Group AF
0.60981267 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000845580
ClinVar Variation:
619953
dbSNP:
439401
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44911194T>C , CM000681.2:g.44911194T>C
GRCh38
NC_000019.9:g.45414451T>C , CM000681.1:g.45414451T>C
GRCh37
NC_000019.8:g.50106291T>C
NCBI36
NG_007084.2:g.10413T>C
NG_012859.1:g.1531T>C
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