ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1889344521
Gene:
Linked Data
dbSNP Id:
rs1832130317
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.8697568T>A , CM000672.2:g.8697568T>A
GRCh38
NC_000010.10:g.8739531T>A , CM000672.1:g.8739531T>A
GRCh37
NC_000010.9:g.8779537T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930641.1:n.33-27767A>T
Search 100 bp 5'
Search 100 bp 3'