ClinGen Allele Registry
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Canonical Allele Identifier:
CA234906716
Gene:
Linked Data
dbSNP:
805136
MyVariant.info:
GRCh38
chr12:g.28045236G>A
GRCh37
chr12:g.28198169G>A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045236G>A , CM000674.2:g.28045236G>A
GRCh38
NC_000012.11:g.28198169G>A , CM000674.1:g.28198169G>A
GRCh37
NC_000012.10:g.28089436G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_931460.1:n.154-6278C>T
Search 100 bp 5'
Search 100 bp 3'