ClinGen Allele Registry
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Canonical Allele Identifier:
CA2686085758
Gene:
Linked Data
gnomAD v4:
8-9325801-A-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.9325801A>T , CM000670.2:g.9325801A>T
GRCh38
NC_000008.10:g.9183311A>T , CM000670.1:g.9183311A>T
GRCh37
NC_000008.9:g.9220721A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040039.1:n.364-101A>T
Search 100 bp 5'
Search 100 bp 3'