ClinGen Allele Registry
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Canonical Allele Identifier:
CA12070875
Community Standard Title: NC_000005.10:g.172771552G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.172771552G>A , CM000667.2:g.172771552G>A
GRCh38
NC_000005.9:g.172198555G>A , CM000667.1:g.172198555G>A
GRCh37
NC_000005.8:g.172131161G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_941232.1:n.144G>A
XR_941233.1:n.144G>A
Search 100 bp 5'
Search 100 bp 3'