ClinGen Allele Registry
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Canonical Allele Identifier:
CA14232780
Community Standard Title: NC_000016.10:g.85939006G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.85939006G>A , CM000678.2:g.85939006G>A
GRCh38
NC_000016.9:g.85972612G>A , CM000678.1:g.85972612G>A
GRCh37
NC_000016.8:g.84530113G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933852.1:n.466-6410G>A
XR_933853.1:n.466-6410G>A
Search 100 bp 5'
Search 100 bp 3'