ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1596629097
Gene:
Linked Data
dbSNP Id:
rs1756514990
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656530G>A , CM000667.2:g.162656530G>A
GRCh38
NC_000005.9:g.162083536G>A , CM000667.1:g.162083536G>A
GRCh37
NC_000005.8:g.162016114G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3572C>T
Search 100 bp 5'
Search 100 bp 3'