ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1796404096
Gene:
Linked Data
dbSNP Id:
rs1810030644
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191199T>A , CM000670.2:g.79191199T>A
GRCh38
NC_000008.10:g.80103434T>A , CM000670.1:g.80103434T>A
GRCh37
NC_000008.9:g.80265989T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+828T>A
Search 100 bp 5'
Search 100 bp 3'