ClinGen Allele Registry
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Canonical Allele Identifier:
CA687013177
Gene:
Linked Data
dbSNP Id:
rs1369616219
MyVariant Identifiers:
chr12:g.28198090G>A (hg19)
chr12:g.28045157G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045157G>A , CM000674.2:g.28045157G>A
GRCh38
NC_000012.11:g.28198090G>A , CM000674.1:g.28198090G>A
GRCh37
NC_000012.10:g.28089357G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6199C>T
Search 100 bp 5'
Search 100 bp 3'