ClinGen Allele Registry
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Canonical Allele Identifier:
CA1139872206
Community Standard Title: NC_000001.11:g.168649403G=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168649403G= , CM000663.2:g.168649403G=
GRCh38
NC_000001.10:g.168618641G= , CM000663.1:g.168618641G=
GRCh37
NC_000001.9:g.166885265G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_922259.1:n.201-8128C=
XR_922259.2:n.332-8128C=
Search 100 bp 5'
Search 100 bp 3'