ClinGen Allele Registry
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Canonical Allele Identifier:
CA160282237
Community Standard Title: NC_000007.14:g.67594280T>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.67594280T>C , CM000669.2:g.67594280T>C
GRCh38
NC_000007.13:g.67059267T>C , CM000669.1:g.67059267T>C
GRCh37
NC_000007.12:g.66696702T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745238.2:n.163+8031A>G
Search 100 bp 5'
Search 100 bp 3'