ClinGen Allele Registry
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Canonical Allele Identifier:
CA2686085745
Gene:
Linked Data
gnomAD v4:
8-9325776-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.9325776T>C , CM000670.2:g.9325776T>C
GRCh38
NC_000008.10:g.9183286T>C , CM000670.1:g.9183286T>C
GRCh37
NC_000008.9:g.9220696T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_040039.1:n.364-126T>C
Search 100 bp 5'
Search 100 bp 3'