ClinGen Allele Registry
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Canonical Allele Identifier:
CA182463537
Gene:
Linked Data
dbSNP Id:
rs891115171
gnomAD v3:
8-97269578-G-T
gnomAD v4:
8-97269578-G-T
MyVariant Identifiers:
chr8:g.98281806G>T (hg19)
chr8:g.97269578G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269578G>T , CM000670.2:g.97269578G>T
GRCh38
NC_000008.10:g.98281806G>T , CM000670.1:g.98281806G>T
GRCh37
NC_000008.9:g.98350982G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149492C>A
Search 100 bp 5'
Search 100 bp 3'