ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA115007
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.92307319G>T , CM000676.2:g.92307319G>T
GRCh38
NC_000014.8:g.92773663G>T , CM000676.1:g.92773663G>T
GRCh37
NC_000014.7:g.91843416G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_944153.1:n.131+2775G>T
Search 100 bp 5'
Search 100 bp 3'