ClinGen Allele Registry
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Canonical Allele Identifier:
CA832742510
Gene:
Linked Data
dbSNP Id:
rs1431929004
MyVariant Identifiers:
chr7:g.123946428T>C (hg19)
chr7:g.124306374T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306374T>C , CM000669.2:g.124306374T>C
GRCh38
NC_000007.13:g.123946428T>C , CM000669.1:g.123946428T>C
GRCh37
NC_000007.12:g.123733664T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-104T>C
Search 100 bp 5'
Search 100 bp 3'