Canonical Allele Identifier: CA321167148
Gene:

Linked Data

dbSNP Id: rs1046317429
gnomAD v3: 21-43168902-G-A
gnomAD v4: 21-43168902-G-A
MyVariant Identifiers: chr21:g.43168902G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168902G>A , CM000683.2:g.43168902G>A GRCh38
NG_009823.1:g.4872G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2135C>T
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