ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2050277238
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.82625409T= , CM000674.2:g.82625409T=
GRCh38
NC_000012.11:g.83019188T= , CM000674.1:g.83019188T=
GRCh37
NC_000012.10:g.81543319T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749145.1:n.225-1104T=
Search 100 bp 5'
Search 100 bp 3'