ClinGen Allele Registry
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Canonical Allele Identifier:
CA910080643
Gene:
Linked Data
dbSNP Id:
rs1157652402
MyVariant Identifiers:
chr3:g.72316005A>C (hg19)
chr3:g.72266854A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266854A>C , CM000665.2:g.72266854A>C
GRCh38
NC_000003.11:g.72316005A>C , CM000665.1:g.72316005A>C
GRCh37
NC_000003.10:g.72398695A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8254T>G
Search 100 bp 5'
Search 100 bp 3'