ClinGen Allele Registry
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Canonical Allele Identifier:
CA1740470084
Gene:
Linked Data
dbSNP Id:
rs1795645595
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306266dup , CM000669.2:g.124306266dup
GRCh38
NC_000007.13:g.123946320dup , CM000669.1:g.123946320dup
GRCh37
NC_000007.12:g.123733556dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.73-212dup
Search 100 bp 5'
Search 100 bp 3'