ClinGen Allele Registry
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Canonical Allele Identifier:
CA1596629185
Gene:
Linked Data
dbSNP Id:
rs1756516010
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656606T>C , CM000667.2:g.162656606T>C
GRCh38
NC_000005.9:g.162083612T>C , CM000667.1:g.162083612T>C
GRCh37
NC_000005.8:g.162016190T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3496A>G
Search 100 bp 5'
Search 100 bp 3'