ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA180418731
Gene:
Linked Data
dbSNP Id:
rs773214573
gnomAD v2:
8-80103414-C-A
gnomAD v3:
8-79191179-C-A
gnomAD v4:
8-79191179-C-A
MyVariant Identifiers:
chr8:g.80103414C>A (hg19)
chr8:g.79191179C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191179C>A , CM000670.2:g.79191179C>A
GRCh38
NC_000008.10:g.80103414C>A , CM000670.1:g.80103414C>A
GRCh37
NC_000008.9:g.80265969C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+808C>A
Search 100 bp 5'
Search 100 bp 3'