ClinGen Allele Registry
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Canonical Allele Identifier:
CA12593460
Community Standard Title: NC_000007.14:g.95397096G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95397096G>A , CM000669.2:g.95397096G>A
GRCh38
NC_000007.13:g.95026408G>A , CM000669.1:g.95026408G>A
GRCh37
NC_000007.12:g.94864344G>A
NCBI36
NG_008726.1:g.4280C>T
Transcript Alleles
HGVS
Amino-acid Change
XR_001745283.1:n.84+68G>A
Search 100 bp 5'
Search 100 bp 3'