ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA35069265
Gene:
Linked Data
dbSNP Id:
rs992343548
gnomAD v4:
1-192800619-T-C
MyVariant Identifiers:
chr1:g.192769749T>C (hg19)
chr1:g.192800619T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800619T>C , CM000663.2:g.192800619T>C
GRCh38
NC_000001.10:g.192769749T>C , CM000663.1:g.192769749T>C
GRCh37
NC_000001.9:g.191036372T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.49T>C
Search 100 bp 5'
Search 100 bp 3'