ClinGen Allele Registry
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Canonical Allele Identifier:
CA13166773
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.100101678G>A
GRCh37
chr10:g.101861435G>A
Linked Data - Sequence & Population
gnomAD v2:
10:101861435 G / A
gnomAD v3:
10:100101678 G / A
gnomAD v4:
chr10-100101678-G-A
Joint Max Group AF
0.35561311 (NFE)
Genomes Max Group AF
0.35561311 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11597390
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.100101678G>A , CM000672.2:g.100101678G>A
GRCh38
NC_000010.10:g.101861435G>A , CM000672.1:g.101861435G>A
GRCh37
NC_000010.9:g.101851425G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946245.1:n.185+5441G>A
Search 100 bp 5'
Search 100 bp 3'