ClinGen Allele Registry
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Canonical Allele Identifier:
CA12426592
Gene:
Linked Data
dbSNP Id:
rs2524276
gnomAD v2:
6-31408265-C-A
gnomAD v3:
6-31440488-C-A
gnomAD v4:
6-31440488-C-A
MyVariant Identifiers:
chr6:g.31408265C>A (hg19)
chr6:g.31440488C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31440488C>A , CM000668.2:g.31440488C>A
GRCh38
NC_000006.11:g.31408265C>A , CM000668.1:g.31408265C>A
GRCh37
NC_000006.10:g.31516244C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.54+372G>T
Search 100 bp 5'
Search 100 bp 3'