ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1086017928
Gene:
Linked Data
gnomAD v3:
6-11943267-T-A
gnomAD v4:
6-11943267-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943267T>A , CM000668.2:g.11943267T>A
GRCh38
NC_000006.11:g.11943500T>A , CM000668.1:g.11943500T>A
GRCh37
NC_000006.10:g.12051486T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8268T>A
Search 100 bp 5'
Search 100 bp 3'