ClinGen Allele Registry
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Canonical Allele Identifier:
CA35069270
Gene:
Linked Data
dbSNP Id:
rs182788550
gnomAD v2:
1-192769806-C-T
gnomAD v3:
1-192800676-C-T
gnomAD v4:
1-192800676-C-T
MyVariant Identifiers:
chr1:g.192769806C>T (hg19)
chr1:g.192800676C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800676C>T , CM000663.2:g.192800676C>T
GRCh38
NC_000001.10:g.192769806C>T , CM000663.1:g.192769806C>T
GRCh37
NC_000001.9:g.191036429C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.106C>T
Search 100 bp 5'
Search 100 bp 3'