ClinGen Allele Registry
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Canonical Allele Identifier:
CA15890609
Community Standard Title: NC_000016.10:g.7879826A>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.7879826A>C , CM000678.2:g.7879826A>C
GRCh38
NC_000016.9:g.7929828A>C , CM000678.1:g.7929828A>C
GRCh37
NC_000016.8:g.7869829A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001752323.1:n.133-55T>G
XR_933039.1:n.133-32T>G
Search 100 bp 5'
Search 100 bp 3'