ClinGen Allele Registry
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Canonical Allele Identifier:
CA2838189233
Community Standard Title: NC_000002.12:g.200157231T>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200157231T>A , CM000664.2:g.200157231T>A
GRCh38
NC_000002.11:g.201021954T>A , CM000664.1:g.201021954T>A
GRCh37
NC_000002.10:g.200730199T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.177+17339A>T
Search 100 bp 5'
Search 100 bp 3'