ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA225652642
Gene:
Linked Data
dbSNP Id:
rs539748414
gnomAD v2:
11-80562702-G-A
gnomAD v3:
11-80851659-G-A
gnomAD v4:
11-80851659-G-A
MyVariant Identifiers:
chr11:g.80562702G>A (hg19)
chr11:g.80851659G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.80851659G>A , CM000673.2:g.80851659G>A
GRCh38
NC_000011.9:g.80562702G>A , CM000673.1:g.80562702G>A
GRCh37
NC_000011.8:g.80240350G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_247272.2:n.124+60632C>T
Search 100 bp 5'
Search 100 bp 3'