ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1139325340
Gene:
Linked Data
gnomAD v3:
Y-14130481-C-A
gnomAD v4:
Y-14130481-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130481C>A , CM000686.2:g.14130481C>A
GRCh38
NC_000024.9:g.16242361C>A , CM000686.1:g.16242361C>A
GRCh37
NC_000024.8:g.14751755C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'