ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1287804772
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.129409778T= , CM000664.2:g.129409778T=
GRCh38
NC_000002.11:g.130167351T= , CM000664.1:g.130167351T=
GRCh37
NC_000002.10:g.129883821T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923322.1:n.167+7093T=
Search 100 bp 5'
Search 100 bp 3'