ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2263927017
Gene:
Linked Data
dbSNP Id:
rs1908572192
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211914A>G , CM000679.2:g.50211914A>G
GRCh38
NC_000017.10:g.48289275A>G , CM000679.1:g.48289275A>G
GRCh37
NC_000017.9:g.45644274A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1921A>G
Search 100 bp 5'
Search 100 bp 3'