ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1267947150
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88015898C= , CM000664.2:g.88015898C=
GRCh38
NC_000002.11:g.88315417C= , CM000664.1:g.88315417C=
GRCh37
NC_000002.10:g.88096532C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940335.3:n.243C=
XR_940336.3:n.243C=
Search 100 bp 5'
Search 100 bp 3'