ClinGen Allele Registry
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Canonical Allele Identifier:
CA1899263507
Community Standard Title: NC_000010.11:g.30201775C=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.30201775C= , CM000672.2:g.30201775C=
GRCh38
NC_000010.10:g.30490704C= , CM000672.1:g.30490704C=
GRCh37
NC_000010.9:g.30530710C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930791.1:n.1193-1712C=
XR_930791.2:n.1449-1712C=
Search 100 bp 5'
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