ClinGen Allele Registry
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Canonical Allele Identifier:
CA1630848742
Community Standard Title: NC_000011.10:g.68682735C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68682735C= , CM000673.2:g.68682735C=
GRCh38
NC_000011.9:g.68450203C= , CM000673.1:g.68450203C=
GRCh37
NC_000011.8:g.68206779C=
NCBI36
NG_052785.1:g.3261C=
Transcript Alleles
HGVS
Amino-acid Change
XR_001748281.1:n.230+5106G=
Search 100 bp 5'
Search 100 bp 3'