ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1139325474
Gene:
Linked Data
dbSNP Id:
rs2079912431
gnomAD v3:
Y-14130719-T-G
gnomAD v4:
Y-14130719-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130719T>G , CM000686.2:g.14130719T>G
GRCh38
NC_000024.9:g.16242599T>G , CM000686.1:g.16242599T>G
GRCh37
NC_000024.8:g.14751993T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'