ClinGen Allele Registry
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Canonical Allele Identifier:
CA12738931
Community Standard Title: NC_000008.11:g.125469233A>T
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125469233A>T , CM000670.2:g.125469233A>T
GRCh38
NC_000008.10:g.126481475A>T , CM000670.1:g.126481475A>T
GRCh37
NC_000008.9:g.126550657A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.77+2200A>T
Search 100 bp 5'
Search 100 bp 3'