ClinGen Allele Registry
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Canonical Allele Identifier:
CA422484415
Gene:
Linked Data
dbSNP Id:
rs1481063980
gnomAD v2:
1-192769731-C-A
gnomAD v3:
1-192800601-C-A
gnomAD v4:
1-192800601-C-A
MyVariant Identifiers:
chr1:g.192769731C>A (hg19)
chr1:g.192800601C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800601C>A , CM000663.2:g.192800601C>A
GRCh38
NC_000001.10:g.192769731C>A , CM000663.1:g.192769731C>A
GRCh37
NC_000001.9:g.191036354C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.31C>A
Search 100 bp 5'
Search 100 bp 3'