ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2713941884
Gene:
Linked Data
dbSNP Id:
rs2115286952
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13400673A>G , CM000669.2:g.13400673A>G
GRCh38
NC_000007.13:g.13440298A>G , CM000669.1:g.13440298A>G
GRCh37
NC_000007.12:g.13406823A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.147+90350A>G
Search 100 bp 5'
Search 100 bp 3'