ClinGen Allele Registry
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Canonical Allele Identifier:
CA817908406
Gene:
Linked Data
dbSNP Id:
rs1160904683
MyVariant Identifiers:
chr6:g.11943589A>C (hg19)
chr6:g.11943356A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943356A>C , CM000668.2:g.11943356A>C
GRCh38
NC_000006.11:g.11943589A>C , CM000668.1:g.11943589A>C
GRCh37
NC_000006.10:g.12051575A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8179A>C
Search 100 bp 5'
Search 100 bp 3'