ClinGen Allele Registry
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Canonical Allele Identifier:
CA12767346
Gene:
Linked Data
dbSNP Id:
rs1486006
gnomAD v2:
8-82390617-G-C
gnomAD v3:
8-81478382-G-C
gnomAD v4:
8-81478382-G-C
MyVariant Identifiers:
chr8:g.82390617G>C (hg19)
chr8:g.81478382G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.81478382G>C , CM000670.2:g.81478382G>C
GRCh38
NC_000008.10:g.82390617G>C , CM000670.1:g.82390617G>C
GRCh37
NC_000008.9:g.82553172G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745980.1:n.514+16408G>C
Search 100 bp 5'
Search 100 bp 3'