ClinGen Allele Registry
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Canonical Allele Identifier:
CA1762557046
Gene:
Linked Data
dbSNP Id:
rs1807098062
gnomAD v4:
8-9325793-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.9325793G>A , CM000670.2:g.9325793G>A
GRCh38
NC_000008.10:g.9183303G>A , CM000670.1:g.9183303G>A
GRCh37
NC_000008.9:g.9220713G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040039.1:n.364-109G>A
Search 100 bp 5'
Search 100 bp 3'