ClinGen Allele Registry
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Canonical Allele Identifier:
CA1267947188
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88015965C= , CM000664.2:g.88015965C=
GRCh38
NC_000002.11:g.88315484C= , CM000664.1:g.88315484C=
GRCh37
NC_000002.10:g.88096599C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940335.3:n.310C=
XR_940336.3:n.310C=
Search 100 bp 5'
Search 100 bp 3'