ClinGen Allele Registry
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Canonical Allele Identifier:
CA2617688838
Community Standard Title: NC_000012.12:g.12724157G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.12724157G>A , CM000674.2:g.12724157G>A
GRCh38
NC_000012.11:g.12877091G>A , CM000674.1:g.12877091G>A
GRCh37
NC_000012.10:g.12768358G>A
NCBI36
NG_016341.1:g.11790G>A
Transcript Alleles
HGVS
Amino-acid Change
XR_931366.1:n.163C>T
Search 100 bp 5'
Search 100 bp 3'