ClinGen Allele Registry
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Canonical Allele Identifier:
CA2263926953
Gene:
Linked Data
dbSNP Id:
rs1598308113
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211789T>G , CM000679.2:g.50211789T>G
GRCh38
NC_000017.10:g.48289150T>G , CM000679.1:g.48289150T>G
GRCh37
NC_000017.9:g.45644149T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2046T>G
Search 100 bp 5'
Search 100 bp 3'