ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1796404061
Gene:
Linked Data
dbSNP Id:
rs1810029385
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191113A>T , CM000670.2:g.79191113A>T
GRCh38
NC_000008.10:g.80103348A>T , CM000670.1:g.80103348A>T
GRCh37
NC_000008.9:g.80265903A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745720.1:n.105+742A>T
Search 100 bp 5'
Search 100 bp 3'